1,149 results match your criteria Hormone Research in Paediatrics [Journal]


Genetic Polymorphisms Associated with Idiopathic Short Stature and First-Year Response to Growth Hormone Treatment.

Horm Res Paediatr 2019 Apr 10:1-11. Epub 2019 Apr 10.

Pediatric Endocrinology, Emory University, Atlanta, Georgia, USA.

Background/aims: The term idiopathic short stature (ISS) describes short stature of unknown, but likely polygenic, etiology. This study aimed to identify genetic polymorphisms associated with the ISS phenotype, and with growth response to supplemental GH.

Methods: Using a case-control analysis we compared the prevalence of "tall" versus "short" alleles at 52 polymorphic loci (17 in growth-related candidate genes, 35 identified in prior genome-wide association studies of adult height) in 94 children with ISS followed in the Genetics and Neuroendocrinology of Short Stature International Study, versus 143 controls from the Fels Longitudinal Study. Read More

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http://dx.doi.org/10.1159/000496989DOI Listing

Whole Exome Sequencing Revealed a Novel Nonsense Variant in the GNRHR Gene Causing Normosmic Hypogonadotropic Hypogonadism in a Pakistani Family.

Horm Res Paediatr 2019 Apr 4;91(1):1-8. Epub 2019 Apr 4.

Department of Andrology, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, China.

Background: Congenital hypogonadotropic hypogonadism (CHH) is a heterogeneous disorder characterized by delayed or loss of puberty and infertility due to functional deficiency in the hypothalamic gonadotropin-releasing hormone (GnRH). CHH can be classified into 2 subtypes on the basis of olfaction: Kallmann syndrome and normosmic CHH (nCHH). The spectrum of genetic variants causing CHH is continually expanding. Read More

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http://dx.doi.org/10.1159/000497114DOI Listing
April 2019
2 Reads

Biological Significance of Anti-GH Antibodies in Children Treated with rhGH.

Horm Res Paediatr 2019 Apr 4;91(1):1-8. Epub 2019 Apr 4.

Institute of Laboratory Medicine, Clinical Chemistry and Molecular Diagnostics, University of Leipzig, Leipzig, Germany.

Background: The occurrence of antidrug antibodies is common in children treated with recombinant human growth hormone (rhGH). However, their clinical significance is unclear.

Objective: This study aimed to examine the clinical significance of anti-GH antibodies by analyzing the phenotype of patients who tested positive in relation to the quantity of anti-GH antibodies. Read More

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http://dx.doi.org/10.1159/000497409DOI Listing
April 2019
1 Read

Treatment with Growth Hormone in Noonan Syndrome Observed during 25 Years of KIGS: Near Adult Height and Outcome Prediction.

Horm Res Paediatr 2019 Apr 2;91(1):46-55. Epub 2019 Apr 2.

PendoCon, Putte, Belgium.

Background/aims: There is little information how rhGH treatment affects height in NS. This study aims to analyze data from the NS patients assembled in KIGS over 25 years.

Patients/methods: Of 613 (389 m/224 f) NS patients documented, 476 (302 m/174 f) were treated for 1 year, 237 (160 m/77 f) of which served to develop a 1st year height velocity (HV) prediction algorithm. Read More

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http://dx.doi.org/10.1159/000498859DOI Listing
April 2019
1.713 Impact Factor

The Bone Markers Sclerostin, Osteoprotegerin, and Bone-Specific Alkaline Phosphatase Are Related to Insulin Resistance in Children and Adolescents, Independent of Their Association with Growth and Obesity.

Horm Res Paediatr 2019 Mar 22:1-8. Epub 2019 Mar 22.

Center for Pediatric Research Leipzig, Hospital for Children & Adolescents, University of Leipzig, Leipzig, Germany,

Background/aims: Sclerostin, osteoprotegerin, and bone-specific alkaline phosphatase (B-ALP), which are primarily related to bone metabolism, have been linked with insulin resistance in adults. We aimed to evaluate the association of these markers with growth, obesity, and parameters of insulin resistance in lean and obese children and adolescents.

Methods: We measured sclerostin, osteoprotegerin, and B-ALP in fasting and oral glucose tolerance test (oGTT) serum samples from 1,325 children and adolescents, and during 24-h profiles and after exercise and glucose exposure in young adults. Read More

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http://dx.doi.org/10.1159/000497113DOI Listing

Rate of Serious Adverse Events Associated with Diazoxide Treatment of Patients with Hyperinsulinism.

Horm Res Paediatr 2019 Mar 19:1-8. Epub 2019 Mar 19.

Division of Neonatology, Cook Children's Medical Center, Fort Worth, Texas, USA.

Introduction: Diazoxide is the first line and only Federal Drug Agency approved pharmacological agent for the treatment of hyperinsulinism. Its use has increased over the years to include patients with various genetic forms of hyperinsulinism, perinatal stress hyperinsulinism and infants of diabetic mothers with more babies than ever being exposed to this therapy.

Methods: We performed a retrospective analysis of 194 patients with hyperinsulinism in our clinic and looked for those who had experienced serious adverse events (SAE) including pulmonary hypertension and neutropenia. Read More

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http://dx.doi.org/10.1159/000497458DOI Listing
March 2019
1 Read

CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort.

Horm Res Paediatr 2019 Mar 19:1-13. Epub 2019 Mar 19.

Department of Pediatric Endocrinology, Centro Materno-infantil do Norte, Porto, Portugal.

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder characterized by 3 overlapping phenotypes: salt-wasting (SW), simple virilizing (SV), and non-classic (NC). We aimed at conducting a nationwide genotype description of the CAH pediatric patients and to establish their genotype-phenotype correlation.

Methods: CAH patients were recruited from Portuguese pediatric endocrinology centers and classified as SW, SV, or NC. Read More

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http://dx.doi.org/10.1159/000497485DOI Listing

Hypothalamic Obesity: Prologue and Promise.

Horm Res Paediatr 2019 Mar 18:1-9. Epub 2019 Mar 18.

Division of Endocrinology, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.

Hypothalamic obesity (HO) frequently occurs following damage to the medial hypothalamic region, encompassing the arcuate nucleus, the paraventricular nucleus, the ventromedial nucleus, the dorsomedial nucleus, and the dorsal hypothalamic area, which are critically involved in the regulation of satiety and energy balance through neural and humoral connections. HO is most commonly described in the context of craniopharyngioma and its treatment, but it can also occur following other suprasellar tumors, radiation, trauma, or a surgical insult to the hypothalamus. A constellation of loss of satiety and a reduction of the metabolic rate, thermogenesis, and physical activity as well as increased vagal tone and hyperinsulinism with insulin and leptin resistance results in rapid weight gain due to a decreased energy expenditure and increased energy storage in adipose cells. Read More

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http://dx.doi.org/10.1159/000496564DOI Listing
March 2019
1 Read

Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement.

Horm Res Paediatr 2019 Mar 15:1-7. Epub 2019 Mar 15.

Department of Endocrinology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.

Initially described as an uncommon presenting feature of Sotos syndrome (SoS), over the last decades, congenital hyperinsulinaemic hypoglycaemia (CHI) has been increasingly reported in association with this condition. The mechanism responsible for CHI in SoS is unclear. We report the case of a neonate presenting with CHI and extensive venous and arterial thrombosis associated with kidney, heart, liver, skeleton, and brain abnormalities and finally diagnosed with SoS on whole genome sequencing. Read More

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http://dx.doi.org/10.1159/000496545DOI Listing
March 2019
2 Reads

Plasma C-Type Natriuretic Peptide: Emerging Applications in Disorders of Skeletal Growth.

Horm Res Paediatr 2018 7;90(6):345-357. Epub 2019 Mar 7.

Division of Endocrinology, Nemours Children's Specialty Care, Jacksonville, Florida, USA.

Although studies in experimental animals show that blood levels of C-type natriuretic peptide (CNP) and its bioinactive aminoterminal propeptide (NTproCNP) are potential biomarkers of long bone growth, a lack of suitable assays and appropriate reference ranges has limited the application of CNP measurements in clinical practice. Plasma concentrations of the processed product of proCNP, NTproCNP - and to a lesser extent CNP itself - correlate with concurrent height velocity throughout all phases of normal skeletal growth, as well as during interventions known to affect skeletal growth in children. Since a change in levels precedes a measurable change in height velocity during interventions, measuring NTproCNP may have predictive value in clinical practice. Read More

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http://dx.doi.org/10.1159/000496544DOI Listing

Body Composition and Circulating Polyunsaturated Fatty Acids at Age 6 Years: A Longitudinal Pilot Study.

Horm Res Paediatr 2018 6;90(6):414-418. Epub 2019 Mar 6.

Endocrinology Department, Pediatric Research Institute Sant Joan de Déu, University of Barcelona, Esplugues, Spain,

Maternal polyunsaturated fatty acid (PUFA) status during pregnancy may influence birth outcomes and offspring adiposity during childhood. Cord blood PUFA levels associate positively with maternal PUFA and negatively with the newborn's abdominal adiposity. However, longitudinal, prospective studies consistently evaluating maternal and cord blood and PUFA levels in childhood and their association with the child's body composition are so far lacking. Read More

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http://dx.doi.org/10.1159/000496988DOI Listing

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome.

Horm Res Paediatr 2018 5;90(6):407-413. Epub 2019 Mar 5.

Cincinnati Center for Growth Disorders, Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

Background/aims: Temple syndrome is an imprinting disorder caused by maternal uniparental disomy of chromosome 14 (mat UPD14), paternal deletion of 14q32 or paternal hypomethylation of the intergenic differentially methylated region (MEG3/DLK1 IG-DMR). Patients with Temple syndrome have pre- and postnatal growth restriction, short stature, hypotonia, small hands and feet and precocious puberty. We sought to determine whether treatment with growth hormone improves growth outcomes in patients with Temple syndrome. Read More

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http://dx.doi.org/10.1159/000496700DOI Listing
March 2019
1 Read

Needle-Free and Needle-Based Growth Hormone Therapy in Children: A Pooled Analysis of Three Long-Term Observational Studies.

Horm Res Paediatr 2018 5;90(6):393-406. Epub 2019 Mar 5.

Division of Paediatric Endocrinology and Diabetes, Christian-Albrechts University of Kiel (CAU) and University Hospital Schleswig-Holstein (UKSH), Campus Kiel, Kiel, Germany,

Background: Treatment with growth hormone (GH) is standard clinical practice in children with GH deficiency (GHD) or Turner syndrome (TS). Hitherto, no long-term data on auxological outcome and safety of Zomacton® have been published. Data comparing needle-free administration (NF) and needle injection (NI) of GH are very sparse. Read More

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http://dx.doi.org/10.1159/000496614DOI Listing
March 2019
4 Reads

Quality of Life in Adolescent Boys with Idiopathic Short Stature: Positive Impact of Growth Hormone and Aromatase Inhibitors.

Horm Res Paediatr 2018 28;90(6):381-392. Epub 2019 Feb 28.

Division of Endocrinology, Nemours Children's Health System, Jacksonville, Florida, USA.

Background: The combination of growth hormone (GH) and aromatase inhibitors (AI) improves linear growth in severely short adolescent boys; however, the effects of this intervention on quality of life (QoL) are unknown. This study assesses whether GH, AI, or their combination impacts the QoL of adolescent males with idiopathic short stature (ISS) from both the adolescent and the parent perspective.

Method: A randomized open-label comparator trial was conducted in 76 pubertal males with ISS who received AI, GH, or AI/GH for 24 months. Read More

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https://www.karger.com/Article/FullText/496353
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http://dx.doi.org/10.1159/000496353DOI Listing
February 2019
10 Reads

Psychosocial Screening in Disorders/Differences of Sex Development: Psychometric Evaluation of the Psychosocial Assessment Tool.

Horm Res Paediatr 2018 15;90(6):368-380. Epub 2019 Feb 15.

Department of Pediatrics and Communicable Diseases and the Child Health Evaluation and Research Center, University of Michigan Medical School, Ann Arbor, Michigan, USA.

Background/aims: Utilization of a psychosocial screener to identify families affected by a disorder/difference of sex development (DSD) and at risk for adjustment challenges may facilitate efficient use of team resources to optimize care. The Psychosocial Assessment Tool (PAT) has been used in other pediatric conditions. The current study explored the reliability and validity of the PAT (modified for use within the DSD population; PAT-DSD). Read More

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http://dx.doi.org/10.1159/000496114DOI Listing
February 2019
3 Reads

Prediction Models for Early Childhood Obesity: Applicability and Existing Issues.

Horm Res Paediatr 2018 8;90(6):358-367. Epub 2019 Feb 8.

A Better Start - National Science Challenge, New Zealand.

Statistical models have been developed for the prediction or diagnosis of a wide range of outcomes. However, to our knowledge, only 7 published studies have reported models to specifically predict overweight and/or obesity in early childhood. These models were developed using known risk factors and vary greatly in terms of their discrimination and predictive capacities. Read More

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http://dx.doi.org/10.1159/000496563DOI Listing
February 2019
4 Reads

A Familial Case of a Whole Germline CDC73 Deletion Discordant for Primary Hyperparathyroidism.

Horm Res Paediatr 2019 Feb 8:1-8. Epub 2019 Feb 8.

Department of Pediatrics, National Hospital Organization Tokyo Medical Center, Tokyo, Japan,

Introduction: Primary hyperparathyroidism (PHPT) occurs as part of familial syndromes, including CDC73-related disorders caused by germline pathogenic variants of the CDC73 gene, particularly in early adulthood. Herein, we report a familial case of a whole germline CDC73 deletion discordant for PHPT.

Case Description: A 15-year-old boy was admitted to our hospital because of persistent nausea and vomiting. Read More

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http://dx.doi.org/10.1159/000495800DOI Listing
February 2019
2 Reads

Growth Disturbances in Childhood Cancer Survivors.

Horm Res Paediatr 2019 Feb 8:1-10. Epub 2019 Feb 8.

Department of Pediatrics, Rutgers-Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.

Survival from childhood cancer has improved dramatically over the last few decades, resulting in an increased need to address the long-term follow-up and care of childhood cancer survivors. Appropriate linear growth is an important measure of health, with alterations of growth in children and short adult height in those who have completed growth serving as potential indicators of the sequelae of the underlying diagnosis or the cancer treatments. It is therefore critical that clinicians, particularly endocrinologists, be familiar with the patterns of altered growth which may be seen following diagnosis and treatment for childhood cancer. Read More

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https://www.karger.com/Article/FullText/496354
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http://dx.doi.org/10.1159/000496354DOI Listing
February 2019
5 Reads

Hypogonadism in Children with a Previous History of Cancer: Endocrine Management and Follow-Up.

Horm Res Paediatr 2019 Jan 31:1-11. Epub 2019 Jan 31.

Department of Paediatric Haematology and Oncology, Royal Hospital for Sick Children, Edinburgh, United Kingdom.

Hypogonadism after treatment for childhood cancer is a recognized complication and its cause may be subdivided into primary gonadal failure and central hypogonadism. Here, we provide an overview of the risk factors for the development of hypogonadism, assessment and potential interventions and give a summary of the current recommendations for management and follow-up of hypogonadism in childhood cancer survivors. Read More

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http://dx.doi.org/10.1159/000495943DOI Listing
January 2019
1 Read

ESPE and PES International Survey of Centers and Clinicians Delivering Specialist Care for Children and Adolescents with Gender Dysphoria.

Horm Res Paediatr 2018 29;90(5):326-331. Epub 2019 Jan 29.

Department of Paediatrics, Leiden University Medical Centre, Leiden, The Netherlands.

Background/aims: Increasing numbers of children and adolescents seek medical care because they experience incongruence between their physical sex and their gender identity.

Methods: The ESPE working group on gender dysphoria (GD) undertook a survey to investigate the structure and the type of medical care in centers that offer specialist care for transgender adolescents.

Results: The personnel of each center varied from country to country, and a nationally organized network or plan for managing GD did not exist in all centers. Read More

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http://dx.doi.org/10.1159/000496115DOI Listing
January 2019
1 Read

Premature Pubarche due to Exogenous Testosterone Gel or Intense Diaper Rash Prevention Cream Use: A Case Series.

Horm Res Paediatr 2019 Jan 24:1-5. Epub 2019 Jan 24.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

Background/aims: Premature pubarche is associated with conditions such as virilizing congenital adrenal hyperplasia, androgen-secreting tumors, and exogenous exposure to androgen products. We describe the clinical and hormonal features of a series of children who were referred to endocrine evaluation due to premature pubarche.

Methods: This is a retrospective case series study of 14 children with premature pubarche and/or virilization. Read More

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http://dx.doi.org/10.1159/000495664DOI Listing
January 2019
2 Reads

Diabetes and Metabolic Syndrome in Survivors of Childhood Cancer.

Horm Res Paediatr 2019 Jan 16:1-10. Epub 2019 Jan 16.

Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.

Endocrine complications, including diabetes and metabolic syndrome, are highly prevalent in childhood cancer survivors. These metabolic derangements may contribute to survivors' risk of excess cardiovascular morbidity and premature mortality. This review summarizes existing knowledge on risk of diabetes and metabolic syndrome among childhood cancer survivors, focusing specifically on known risk factors, potential mechanisms, and screening recommendations. Read More

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https://www.karger.com/Article/FullText/495698
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http://dx.doi.org/10.1159/000495698DOI Listing
January 2019
11 Reads

The Predictive Value of Insulin-Like Growth Factor 1 in Irradiation-Dependent Growth Hormone Deficiency in Childhood Cancer Survivors.

Horm Res Paediatr 2018 15;90(5):314-325. Epub 2019 Jan 15.

Department of Paediatric Endocrinology, Royal Marsden NHS Foundation Trust, London, United Kingdom.

Background: The literature contains conflicting reports on the value of low insulin-like growth factor 1 (IGF-1) levels in predicting radiation-induced growth hormone (GH) deficiency (GHD) in childhood cancer survivors (CCS). These reports often involve small samples of patients who have received irradiation or mixed cohorts including non-irradiated subjects.

Objective: We undertook an analysis of the predictive value of low IGF-1 in CCS at risk for GHD after cranial radiotherapy involving the hypothalamic-pituitary (HP) area in a large single-centre cohort. Read More

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http://dx.doi.org/10.1159/000495760DOI Listing
January 2019
3 Reads

A Child with Early-Onset Gorham-Stout Disease Complicated by Chylothorax: Near-Complete Regression of Bone Lesions with Interferon and Bisphosphonate Treatment.

Horm Res Paediatr 2019 Jan 10:1-5. Epub 2019 Jan 10.

Pediatric Clinic, Department Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.

We report a case of Gorham-Stout disease (GSD) complicated by chylothorax and treated with a combination therapy with interferon and bisphosphonates. This treatment may be helpful in improving the usually unfavorable prognosis of GSD beginning with a chylothorax before 1 year of age, and in reducing bone lesions. Moreover, the use of bisphosphonates appears to be useful in treating pain. Read More

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https://www.karger.com/Article/FullText/495364
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http://dx.doi.org/10.1159/000495364DOI Listing
January 2019
11 Reads

Clinical, Histochemical, and Molecular Study of Three Turkish Siblings Diagnosed with H Syndrome, and Literature Review.

Horm Res Paediatr 2019 Jan 9:1-10. Epub 2019 Jan 9.

Department of Paediatric Allergy and Immunology, Eskisehir Osmangazi University School of Medicine, Eskisehir, Turkey.

Background: The term "H syndrome" was coined to denote the major clinical findings, which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hyperglycaemia, hypogonadism, hallux flexion contractures, and short height.

Objective: To report the clinical, endocrinological, histochemical, and genetic findings of three siblings.

Methods: Skin and liver biopsies were taken to investigate the histochemical characteristics of hyperpigmented hypertrichotic skin lesions and massive hepatomegaly. Read More

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https://www.karger.com/Article/FullText/495190
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http://dx.doi.org/10.1159/000495190DOI Listing
January 2019
10 Reads

Parent-Rated Severity of Illness and Anxiety among Caregivers of Children Born with a Disorder of Sex Development Including Ambiguous Genitalia.

Horm Res Paediatr 2018 19;90(5):308-313. Epub 2018 Dec 19.

Department of Psychology, Oklahoma State University, Stillwater, Oklahoma, USA.

Background/aims: Parents of children born with disorders of sex development (DSD) often experience anxiety, but risk factors, including parental perception of the severity of their child's DSD, have not been examined. We hypothesized that severity of illness (SOI) ratings would relate to parental anxiety, and would be higher for parents of children with a potentially life-threatening DSD (e.g. Read More

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http://dx.doi.org/10.1159/000495422DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421083PMC
December 2018
2 Reads

Thyroid Sequelae of Pediatric Cancer Therapy.

Horm Res Paediatr 2018 Dec 12:1-14. Epub 2018 Dec 12.

Department of Endocrine Neoplasia and Hormonal Disorders and the Department of Pediatrics-Patient Care, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA,

The hypothalamic-pituitary-thyroid axis is a common site of unintended, acquired disease either during or after the treatment of cancer. Children treated with external radiation therapy are at the highest risk for developing a thyroid-related late effect, but thyroid dysfunction and second primary thyroid neoplasms can also occur after treatment with radiopharmaceutical agents such as 131I-metaiodobenzylguanidine. Increasingly recognized is the development of early thyroid dysfunction as an off-target consequence of the more novel cancer therapeutics such as the tyrosine kinase inhibitors and immune checkpoint inhibitors. Read More

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http://dx.doi.org/10.1159/000495040DOI Listing
December 2018
17 Reads

Maternal Stress During Pregnancy Is Associated with Decreased Cortisol and Cortisone Levels in Neonatal Hair.

Horm Res Paediatr 2018 12;90(5):299-307. Epub 2018 Dec 12.

Department of Pediatric Endocrinology, VU University Medical Center, Amsterdam, The Netherlands.

Background: Hair glucocorticoids (GCs) offer a retrospective view on chronic GC exposure. We assessed whether maternal pre- and postnatal stress was associated with neonatal and maternal hair GCs postpartum (pp).

Methods: On the first day pp 172 mother-infant pairs donated hair, of whom 67 had consulted a centre of expertise for psychiatric disorders during pregnancy. Read More

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http://dx.doi.org/10.1159/000495007DOI Listing
December 2018
7 Reads

Gonadotropin- and Adrenocorticotropic Hormone-Independent Precocious Puberty of Gonadal Origin in a Patient with Adrenal Hypoplasia Congenita Due to DAX1 Gene Mutation - A Case Report and Review of the Literature: Implications for the Pathomechanism.

Horm Res Paediatr 2018 12 11:1-10. Epub 2018 Dec 11.

Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University of Ulm, Ulm, Germany.

Background/aims: Mutations in the DAX1 gene cause X-linked adrenal hypoplasia congenita (AHC) classically associated with hypogonadotropic hypogonadism. Unexpectedly, precocious puberty (PP) has been reported in some cases, its mechanism remaining unclear.

Methods: We longitudinally studied a boy with AHC due to DAX1 gene mutation who developed peripheral PP at age 4. Read More

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http://dx.doi.org/10.1159/000495189DOI Listing
December 2018
4 Reads

Identifying Potentially Modifiable Factors Associated with Treatment Non-Adherence in Paediatric Growth Hormone Deficiency: A Systematic Review.

Horm Res Paediatr 2018 6;90(4):221-227. Epub 2018 Dec 6.

Institute of Pharmaceutical Science, King's College London, London, United Kingdom.

Background: Despite the developments of recombinant growth hormone (rhGH) treatment and the benefits in long-term clinical health outcomes, evidence has shown that many children with growth hormone deficiency (GHD) still fail to achieve their target adult height. Suboptimal outcomes have been largely attributed to treatment non-adherence.

Methods: A search of 11 electronic databases was undertaken to identify relevant articles, published in English, between 1985 and 2018. Read More

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http://dx.doi.org/10.1159/000493211DOI Listing
April 2019
19 Reads

Prevalence of Metabolic Bone Disease in Tube-Fed Children Receiving Elemental Formula.

Horm Res Paediatr 2018 29;90(5):291-298. Epub 2018 Nov 29.

Division of Pediatric Endocrinology, Mayo Clinic, Rochester, Minnesota, USA.

Background: Previous studies suggest normal mineral status in children receiving elemental formula. However, a recent multicenter survey described 51 children who developed hypophosphatemia and bone disease while receiving elemental formula. Our aim is to determine the prevalence of metabolic bone disease in children receiving extensively hydrolyzed or amino acid-based formula. Read More

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http://dx.doi.org/10.1159/000494726DOI Listing
November 2018
4 Reads

Practice Variance in Thyroid Screening of Youth with Type 1 Diabetes Mellitus.

Horm Res Paediatr 2018 29;90(4):266-269. Epub 2018 Nov 29.

Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.

Background: Variance between current American Diabetes Association (ADA) and International Society for Pediatric and Adolescent Diabetes (ISPAD) guidelines and in clinical practice exists for the use of thyroid antibody and thyroid function screening in pediatric patients with new-onset type 1 diabetes (T1D).

Methods: North American Pediatric Endocrine Society (PES) members were surveyed regarding their thyroid screening practices of euthyroid youth with T1D. An institutional analysis of the ability of antithyroid peroxidase (aTPO) and antithyroglobulin antibodies (aTG) to predict the subsequent use of levothyroxine was performed. Read More

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https://www.karger.com/Article/FullText/494727
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http://dx.doi.org/10.1159/000494727DOI Listing
April 2019
3 Reads

Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes.

Horm Res Paediatr 2018 29;90(5):283-290. Epub 2018 Nov 29.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea,

Background/aims: Syndromes of reduced sensitivity to thyroid hormone can be caused by innate resistance to thyroid hormone (RTH), thyroid hormone cell transporter defects, or thyroid hormone metabolism defects. This study was performed to describe clinical, endocrinological, and molecular characteristics of patients with disorders associated with impaired sensitivity to thyroid hormone due to THRB or SLC16A2 mutations.

Methods: This study included 5 probands (1 male and 4 females) with RTH and 6 patients with Allan-Herndon-Dudley syndrome (AHDS). Read More

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http://dx.doi.org/10.1159/000493468DOI Listing
November 2018
2 Reads

Skeletal Morbidity in Children and Adolescents during and following Cancer Therapy.

Horm Res Paediatr 2018 Nov 27:1-15. Epub 2018 Nov 27.

Department of Pediatrics, The Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.

Skeletal abnormalities are common in children and adolescents diagnosed and treated for a malignancy. The spectrum ranges from mild pain to debilitating osteonecrosis and fractures. In this review, we summarize the impact of cancer therapy on the developing skeleton, provide an update on therapeutic strategies for prevention and treatment, and discuss the most recent advances in musculoskeletal research. Read More

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https://www.karger.com/Article/FullText/494809
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http://dx.doi.org/10.1159/000494809DOI Listing
November 2018
18 Reads

Maturity Onset Diabetes of the Young due to Glucokinase, HNF1-A, HNF1-B, and HNF4-A Mutations in a Cohort of Turkish Children Diagnosed as Type 1 Diabetes Mellitus.

Horm Res Paediatr 2018 27;90(4):257-265. Epub 2018 Nov 27.

University of Koc, School of Medicine, Department of Pediatric Endocrinology and Diabetes, İstanbul, Turkey.

Background/aims: Maturity onset diabetes of the young (MODY) is a rare condition often misdiagnosed as type 1 diabetes (T1D). The purposes of this study were: to identify any patients followed in a large Turkish cohort as T1D, with an atypical natural history, who may in fact have MODY, and to define the criteria which would indicate patients with likely MODY as early as possible after presentation to allow prompt genetic testing.

Methods: Urinary C-peptide/creatinine ratio (UCPCR) was studied in 152 patients having a diagnosis of T1D for at least 3 years. Read More

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http://dx.doi.org/10.1159/000494431DOI Listing
April 2019
4 Reads

Relation between Early Over- and Undertreatment and Behavioural Problems in Preadolescent Children with Congenital Hypothyroidism.

Horm Res Paediatr 2018 8;90(4):247-256. Epub 2018 Nov 8.

Department of Pediatrics, Erasmus MC - Sophia Children's Hospital , University Medical Center Rotterdam, Rotterdam, The Netherlands,

Objective: Congenital hypothyroidism (CH) per se, when not treated or undertreated, may lead to severe behavioural problems (cretinism), whereas overtreatment of CH seems associated with attention problems.

Design And Methods: For 55 CH patients, prospectively followed from birth until 11 years, parents rated the Child Behaviour Checklist and teachers the Teacher's Report Form at children's ages 6 and 11 years. We related scores regarding Attention, Delinquency, and Aggression (ADA scores, indicative for attention deficit hyperactivity syndrome, ADHD), and scores regarding Withdrawn, Anxious, Social, and Thought problems (WAST scores, indicative for autism) to the occurrence of over- and undertreatment in five age periods. Read More

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https://www.karger.com/Article/FullText/494056
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http://dx.doi.org/10.1159/000494056DOI Listing
April 2019
10 Reads

Childhood Cancer Treatments and Associated Endocrine Late Effects: A Concise Guide for the Pediatric Endocrinologist.

Horm Res Paediatr 2018 Nov 7:1-9. Epub 2018 Nov 7.

Department of Pediatrics, Memorial-Sloan Kettering Cancer Center, New York, New York, USA.

Endocrine complications are frequently observed in childhood cancer survivors (CCS); in many instances, these complications develop months to years after the completion of cancer therapy. The estimated prevalence of endocrine late effects is 50% among CCS; the main risk factors are external beam radiation that includes key endocrine organs (the hypothalamus/pituitary, thyroid and gonads) and/or alkylating agents. Novel agents targeting tumor growth have increased the options available to a small number of patients albeit with the need for treatment over long periods of time. Read More

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https://www.karger.com/Article/FullText/493943
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http://dx.doi.org/10.1159/000493943DOI Listing
November 2018
22 Reads

Preface.

Horm Res Paediatr 2018 Oct 25. Epub 2018 Oct 25.

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http://dx.doi.org/10.1159/000493664DOI Listing
October 2018
1 Read

XXVII Latin American Meeting of Pediatric Endocrinology. Cusco, Peru, October 24-27, 2018: Abstracts.

Authors:

Horm Res Paediatr 2018 22;90 Suppl 2:1-72. Epub 2018 Oct 22.

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http://dx.doi.org/10.1159/000493744DOI Listing
October 2018
3 Reads

The Interconnected Histories of Endocrinology and Eligibility in Women's Sport.

Horm Res Paediatr 2018 18;90(4):213-220. Epub 2018 Oct 18.

Department of Sport Management, University of Lynchburg College, Lynchburg, Virginia,

This report illustrates the links between history, sport, endocrinology, and genetics to show the ways in which historical context is key to understanding the current conversations and controversies about who may compete in the female category in elite sport. The International Association of Athletics Federations (IAAF) introduced hyperandrogenemia regulations for women's competitions in 2011, followed by the International Olympic Committee (IOC) for the 2012 Olympics. The policies concern female athletes who naturally produce higher-than-average levels of testosterone and want to compete in the women's category. Read More

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http://dx.doi.org/10.1159/000493646DOI Listing
April 2019
1 Read

Management of Gonads in Adults with Androgen Insensitivity: An International Survey.

Horm Res Paediatr 2018 18;90(4):236-246. Epub 2018 Oct 18.

Division of Paediatric Endocrinology, Department of Paediatrics, Ghent University Hospital, Department of Internal Medicine and Paediatrics, Ghent University, Ghent, Belgium.

Background: Complete and partial androgen insensitivity syndrome (CAIS, PAIS) are associated with an increased risk of gonadal germ cell cancer (GGCC). Recent guidelines recommend gonadectomy in women with CAIS in late adolescence. Nevertheless, many adult women prefer to retain their gonads. Read More

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https://www.karger.com/Article/FullText/493645
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http://dx.doi.org/10.1159/000493645DOI Listing
April 2019
22 Reads

Perioperative Hypotensive Crisis in an Adolescent with a Pancreatic VIPoma and MEN1-Gene Variant.

Horm Res Paediatr 2018 Oct 16:1-5. Epub 2018 Oct 16.

Division of Endocrinology, Department of Pediatrics, British Columbia Children's Hospital and The University of British Columbia, Vancouver, British Columbia, Canada.

Background: Vasoactive intestinal peptide-secreting tumours (VIPomas) lead to high-volume secretory diarrhoea with hypokalaemia, as well as hyperglycaemia and hypercalcaemia. Diagnosis is often delayed.

Case Description: We present a 13-year-old girl with a distal pancreatic VIPoma diagnosed on her second hospital presentation who became severely hypotensive on anaesthetic induction prior to tumour removal, likely due to the vasodilatory effect of supraphysiological VIP levels. Read More

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https://www.karger.com/Article/FullText/493396
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http://dx.doi.org/10.1159/000493396DOI Listing
October 2018
29 Reads

Homocysteine Level in Children with Classic Congenital Adrenal Hyperplasia: Relationship to Carotid Intimal Wall Thickness and Left Ventricular Function.

Horm Res Paediatr 2018 12;90(4):228-235. Epub 2018 Oct 12.

Department of Clinical Pathology, Qena Faculty of Medicine, South Valley University, Qena, Egypt.

Background/aims: Homocysteine is an important and independent risk factor for atherosclerotic diseases. The aim of this study was to evaluate serum levels of homocysteine in children with congenital adrenal hyperplasia (CAH) and their relation to carotid artery intima-media thickness (CA-IMT) and left ventricular (LV) function.

Methods: This study included 36 children with classic CAH and 36 healthy children. Read More

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https://www.karger.com/Article/FullText/492900
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http://dx.doi.org/10.1159/000492900DOI Listing
April 2019
3 Reads

Impact of the Choice of IGF-I Assay and Normative Dataset on the Diagnosis and Treatment of Growth Hormone Deficiency in Children.

Horm Res Paediatr 2018 4;90(3):181-189. Epub 2018 Oct 4.

Department of Clinical Chemistry, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.

Background: The analysis of insulin-like growth factor I (IGF-I) is an important tool for pediatricians in the diagnosis and treatment of growth hormone deficiency in children. However, significant differences exist in IGF-I assays and normative datasets, which can have important clinical consequences.

Methods: IGF-I analyses were performed using the IDS-iSYS platform on 1,897 samples from pediatric patients (0. Read More

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https://www.karger.com/Article/FullText/493133
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http://dx.doi.org/10.1159/000493133DOI Listing
February 2019
10 Reads

Cost-Conscious Growth-Promoting Treatment: When Discretion Is the Better Part of Value.

Authors:
David B Allen

Horm Res Paediatr 2018 28;90(3):145-150. Epub 2018 Sep 28.

Assessing cost-effectiveness of human growth hormone (hGH) treatment to augment height is complicated by uncertainty about how best to measure its therapeutic effect. Cost-conscious growth promotion practice, however, is possible and likely an emerging practical requisite as health care payers increasingly deny the medical necessity of and restrict support for short stature treatment. The increase in denials is not surprising given the expansion and continued high cost of hGH treatment, debate about the value of such treatment, and universal need to restrain burgeoning health care costs. Read More

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http://dx.doi.org/10.1159/000493397DOI Listing
February 2019
12 Reads

MKRN3 Levels in Girls with Central Precocious Puberty during GnRHa Treatment: A Longitudinal Study.

Horm Res Paediatr 2018 28;90(3):190-195. Epub 2018 Sep 28.

Department of Woman, Child, General and Specialized Surgery, Università degli Studi della Campania "Luigi Vanvitelli", Naples, Italy.

Background: Recently, mutations of makorin RING finger protein 3 (MKRN3) have been identified in familial central precocious puberty (CPP). Serum levels of this protein decline before the pubertal onset in healthy girls and boys and are lower in patients with CPP compared to prepubertal matched pairs. The aim of our study was to investigate longitudinal changes in circulating MKRN3 levels in patients with CPP before and during GnRH analogs (GnRHa) treatment. Read More

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https://www.karger.com/Article/FullText/493134
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http://dx.doi.org/10.1159/000493134DOI Listing
February 2019
17 Reads

Incidence and Outcomes of Pituitary Microadenomas in Children with Short Stature/Growth Hormone Deficiency.

Horm Res Paediatr 2018 27;90(3):151-160. Epub 2018 Sep 27.

Division of Pediatric Endocrinology, Children's Hospital at Montefiore/Albert Einstein College of Medicine, Bronx, New York, USA.

Background/aims: Patients with short stature (SS)/growth hormone deficiency (GHD) and precocious puberty (PP) undergo brain MRI to evaluate for structural brain abnormalities or pituitary lesions, and pituitary microadenomas are a common finding. Theoretically, a mass effect from these lesions could cause GHD and growth hormone treatment could cause them to enlarge, but they should not cause PP, at least in females.

Methods: We investigated if pituitary microadenomas cause GHD by comparing their incidence in patients with SS/GHD to that in females with PP. Read More

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http://dx.doi.org/10.1159/000489456DOI Listing
February 2019
29 Reads

Rare Cause of Infantile Hypercalcemia: A Novel Mutation in the SLC34A1 Gene.

Horm Res Paediatr 2018 Sep 18:1-7. Epub 2018 Sep 18.

Background: Under physiological conditions, proximal tubular phosphate reabsorption via NaPi-IIa (and NaPi-IIc) ensures the maintenance of phosphate homeostasis. Impairment of NaPi-IIa, encoded by SLC34A1, is associated with various overlapping clinical syndromes, including hypophosphatemic nephrolithiasis with osteoporosis, renal Fanconi's syndrome with chronic kidney disease, and idiopathic infantile hypercalcemia and nephrocalcinosis.

Methods: A patient was referred to our hospital due to hyponatremia, hyperkalemia, and hypophosphatemia, as well as persistent hypercalcemia after fluid therapy and sodium replacement. Read More

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http://dx.doi.org/10.1159/000492899DOI Listing
September 2018
7 Reads

Prenatal Exposure to Persistent Organic Pollutants and Anogenital Distance in Children at 18 Months.

Horm Res Paediatr 2018 13;90(2):116-122. Epub 2018 Sep 13.

Spanish Consortium for Research on Epidemiology and Public Health (CIBERESP), Madrid, Spain.

Background: Anogenital distance (AGD) is a measure of in utero exposure to hormonally active agents. The aim of the present study was to evaluate the association between prenatal exposure to persistent organic pollutants (POPs) and AGD.

Methods: POP levels were measured in pregnant women, and the AGD was recorded in 43 offspring at 18 months. Read More

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http://dx.doi.org/10.1159/000492236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214604PMC
January 2019
2 Reads
1.713 Impact Factor

Growth Hormone Treatment for Short Stature in the USA, Germany and France: 15 Years of Surveillance in the Genetics and Neuroendocrinology of Short-Stature International Study (GeNeSIS).

Horm Res Paediatr 2018 10;90(3):169-180. Epub 2018 Sep 10.

Children's Hospital, University of Giessen, Giessen, Germany.

Background/aims: To describe characteristics, auxological outcomes and safety in paediatric patients with growth disorders treated with growth hormone (GH), for cohorts from the USA, Germany and France enrolled in GeNeSIS, a post-authorisation surveillance programme.

Methods: Diagnosis and biochemical measurement data were based on reporting from, and GH treatment was initiated at the discretion of, treating physicians. Auxological outcomes during the first 4 years of GH treatment and at near-adult height (NAH) were analysed. Read More

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http://dx.doi.org/10.1159/000492397DOI Listing
February 2019
36 Reads
1.713 Impact Factor