1,136 results match your criteria Hormone Research in Paediatrics [Journal]


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

Horm Res Paediatr 2019 Feb 8:1-10. 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

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,

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
1 Read

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

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

Horm Res Paediatr 2019 Jan 29;90(5):1-6. 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

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
1 Read

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
7 Reads

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

Horm Res Paediatr 2019 Jan 15:1-12. 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
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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
7 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
5 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 Dec 19:1-6. 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
December 2018

Thyroid Sequelae of Pediatric Cancer Therapy.

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

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
11 Reads

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

Horm Res Paediatr 2018 Dec 12:1-9. 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
4 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
2 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.

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
December 2018
12 Reads

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

Horm Res Paediatr 2018 Nov 29:1-8. 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
1 Read

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
November 2018
2 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 Nov 29:1-8. Epub 2018 Nov 29.

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

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

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
10 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
November 2018
1 Read

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

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
November 2018
5 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
17 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

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
1 Read

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
October 2018

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
October 2018
10 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
17 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
October 2018
1 Read

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
October 2018
9 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
September 2018
7 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
September 2018
11 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
September 2018
16 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
4 Reads

57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE).

Authors:

Horm Res Paediatr 2018 14;90 Suppl 1:I-II. Epub 2018 Sep 14.

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http://dx.doi.org/10.1159/000492311DOI Listing
September 2018
23 Reads

57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE).

Authors:

Horm Res Paediatr 2018 14;90 Suppl 1:1-680. Epub 2018 Sep 14.

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http://dx.doi.org/10.1159/000492307DOI Listing
September 2018
1 Read

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
1 Read
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
September 2018
25 Reads
1.713 Impact Factor

Next-Generation Sequencing Identifies Different Genetic Defects in 2 Patients with Primary Adrenal Insufficiency and Gonadotropin-Independent Precocious Puberty.

Horm Res Paediatr 2018 4;90(3):203-211. Epub 2018 Sep 4.

Endocrinology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Background: The development of gonadotropin-independent (peripheral) precocious puberty in male children with primary adrenal insufficiency (PAI) is consistent with a defect in the genes encoding for the enzymes involved in steroid hormone biosynthesis.

Methods: Two young boys presented with peripheral precocious puberty followed by PAI. In both patients, the analysis of CYP21A2 gene encoding 21-hydroxylase was normal. Read More

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http://dx.doi.org/10.1159/000492496DOI Listing
September 2018
7 Reads

Accelerated Pubertal Tempo in a 46,XY Aromatase-Deficient Patient.

Horm Res Paediatr 2018 31;90(4):275-282. Epub 2018 Aug 31.

Servicio de Endocrinología, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.

Background: Aromatase deficiency is a rare autosomal recessive disorder. 46,XY-affected patients often remain undiagnosed until late puberty. Only 2 pediatric cases have been reported. Read More

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http://dx.doi.org/10.1159/000492128DOI Listing
August 2018
2 Reads

Effect of Thyroid Hormones on Neurons and Neurodevelopment.

Horm Res Paediatr 2018 29;90(2):73-81. Epub 2018 Aug 29.

This review focuses on the current knowledge of the effects of thyroid hormones on central nervous system differentiation and development in animals and the human fetal brain. The outcomes of children with congenital hypothyroidism and of newborns with hypothyroid pregnant mothers are emphasized, focusing on how therapies could affect and especially improve the outcomes. Read More

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http://dx.doi.org/10.1159/000492129DOI Listing
January 2019
3 Reads

Effects of Recombinant Human Growth Hormone in Children with Crohn's Disease on the Muscle-Bone Unit: A Preliminary Study.

Horm Res Paediatr 2018 27;90(2):128-131. Epub 2018 Aug 27.

Developmental Endocrinology Research Group, University of Glasgow, Royal Hospital for Children, Glasgow, United Kingdom.

Background/aims: There is limited information on the impact of recombinant human growth hormone (rhGH) on the muscle-bone unit in children with Crohn's disease (CD). In this pilot study, we report on the effects of rhGH on bone formation, dual-energy X-ray absorptiometry (DXA) total body (TB) bone mineral density adjusted for height and lumbar spine (LS) bone mineral apparent density (BMAD), and body composition.

Methods: Prospective study of 8 children with CD (6 male), aged 14. Read More

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http://dx.doi.org/10.1159/000492398DOI Listing
January 2019
10 Reads

Prevalence of Testicular Adrenal Rest Tumor and Factors Associated with Its Development in Congenital Adrenal Hyperplasia.

Horm Res Paediatr 2018 27;90(3):161-168. Epub 2018 Aug 27.

Pediatric Endocrinology Unit, Department of Pediatrics/CIPED, University of Campinas, UNICAMP, Campinas, Brazil.

Background: Testicular adrenal rest tumors (TART) can cause infertility in congenital adrenal hyperplasia (CAH) males.

Aims: To determine TART prevalence in patients with CAH due to 21-hydroxylase deficiency (21-OHD) and evaluate possible factors associated with its development.

Methods: This is a descriptive and analytical cross-sectional study evaluating males with the classical form of 21-OHD through testicular ultrasonography and serum inhibin B dosages. Read More

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http://dx.doi.org/10.1159/000492082DOI Listing
August 2018
5 Reads

Racial/Ethnic Disparities in US Pediatric Growth Hormone Treatment.

Horm Res Paediatr 2018 21;90(2):102-108. Epub 2018 Aug 21.

Pfizer Inc., New York, New York, USA.

Background/aims: To compare racial/ethnic proportions of subjects receiving growth hormone (GH) treatment to the expected proportions, and secondarily, to assess racial/ethnic differences in subject characteristics at GH treatment initiation.

Methods: Race/ethnicity-based expected frequencies of height <-2.25 SD were determined by applying relative risks for short stature, calculated from a regional population of 189,280 pediatric primary care patients, to US census data, and compared to racial/ethnic proportions of US subjects enrolled in the Pfizer International Growth Study (KIGS) using the χ2 test. Read More

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http://dx.doi.org/10.1159/000491793DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6220671PMC
January 2019
6 Reads

The Use of a Long-Acting Somatostatin Analogue (Lanreotide) in Three Children with Focal Forms of Congenital Hyperinsulinaemic Hypoglycaemia.

Horm Res Paediatr 2018 Aug 16:1-6. Epub 2018 Aug 16.

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

Background: A long-acting somatostatin analogue (lanreotide) is used in the management of a diazoxide-unresponsive diffuse form of congenital hyperinsulinism (CHI). However, no reports of its use in patients with the focal form of CHI exist. Case 1: A 1-month-old boy diagnosed with diazoxide-unresponsive CHI due to a paternal heterozygous ABCC8 gene mutation showed partial response to octreotide. Read More

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http://dx.doi.org/10.1159/000491101DOI Listing
August 2018
4 Reads

Prepubertal Children Exposed to Maternal Gestational Diabetes Have Latent Low-Grade Inflammation.

Horm Res Paediatr 2018 15;90(2):109-115. Epub 2018 Aug 15.

Department of Pediatrics, Kuopio University Hospital, Kuopio, Finland.

Background: Maternal gestational diabetes mellitus (GDM) and overweight are associated with an increased risk of obesity and the metabolic syndrome in the adult offspring. We studied the influence of maternal GDM on prepubertal children's height, weight, body mass index (BMI), lipid and glucose metabolism, and low-grade inflammation.

Methods: A cohort of 135 prepubertal Caucasian children (age range 4. Read More

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http://dx.doi.org/10.1159/000491938DOI Listing
January 2019
3 Reads

Effect of Growth Hormone Therapy on Height Velocity in Korean Children with Idiopathic Short Stature: A Phase III Randomised Controlled Trial.

Horm Res Paediatr 2018 15;90(1):44-53. Epub 2018 Aug 15.

Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.

Background/aims: The SYNERGY (Saizen® for Your New Life and Brighter Tomorrow without Growth Deficiency) study is the first randomised multi-centre, open-label study to assess the short-term efficacy and safety of this recombinant human growth hormone (r-hGH) preparation for prepubertal children with idiopathic short stature in South Korea.

Methods: The SYNERGY study (ClinicalTrials.gov NCT01746862) was conducted at 9 centres throughout South Korea between December 2012 and March 2015. Read More

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http://dx.doi.org/10.1159/000491016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214610PMC
December 2018
4 Reads

Fetal Goitrous Hypothyroidism and Polyhydramnios in a Patient with Compound Heterozygous DUOXA2 Mutations.

Horm Res Paediatr 2018 15;90(2):132-137. Epub 2018 Aug 15.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

Background: Fetal goiter is only rarely observed in pregnant women without autoimmune thyroid disorders, and there is no epidemiological data on its pathophysiology. Dual oxidase maturation factor 2 (DUOXA2), together with dual oxidase 2, serves pivotal roles in thyroid hormone biosynthesis. To date, all reported patients with DUOXA2 mutations were diagnosed postnatally through newborn screening for congenital hypothyroidism. Read More

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https://www.karger.com/Article/FullText/491104
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http://dx.doi.org/10.1159/000491104DOI Listing
January 2019
10 Reads

Post-Prandial Hyperinsulinaemic Hypoglycaemia after Oesophageal Surgery in Children.

Horm Res Paediatr 2018 Aug 9:1-5. Epub 2018 Aug 9.

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

Introduction: Post-prandial hyperinsulinaemic hypoglycaemia (PPHH) is a recognized complication of various gastric surgeries in children, but rarely reported after oesophageal atresia repair. We report 2 children diagnosed with PPHH after oesophageal surgery and the challenges of their management. Case 1: A 2-year-old boy diagnosed with oesophageal atresia at birth was surgically repaired requiring 6 oesophageal dilatations in the first year of life. Read More

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http://dx.doi.org/10.1159/000491647DOI Listing
August 2018
4 Reads

Rapid Growth and Early Metastasis of Papillary Thyroid Carcinoma in an Adolescent Girl with Graves' Disease.

Horm Res Paediatr 2018 Aug 9:1-6. Epub 2018 Aug 9.

Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

Background: The risk factors for rapid growth and early metastasis of papillary thyroid carcinoma (PTC) and the role of coexisting Graves' disease in the clinical course of PTC remain uncertain in children.

Case Description: We report on a Japanese girl, whose PTC rapidly grew and metastasized within 4 years. Graves' disease was diagnosed by the presence of serum TSH receptor antibodies at 8 years of age when thyroid ultrasonography detected no nodules. Read More

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http://dx.doi.org/10.1159/000491102DOI Listing
August 2018
24 Reads

Continuous Intragastric Dextrose: A Therapeutic Option for Refractory Hypoglycemia in Congenital Hyperinsulinism.

Horm Res Paediatr 2018 Aug 7:1-7. Epub 2018 Aug 7.

Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Feeding problems are frequent in infants with congenital hyperinsulinism (HI) and may be exacerbated by continuous enteral nutrition (EN) used to maintain euglycemia. Our center's HI team uses dextrose solution given continuously via gastric tube (intrasgastric dextrose, IGD) for infants not fully responsive to conventional medical therapy or pancreatectomy. Here, we describe our practice as well as growth, feeding, and adverse events in infants with HI exposed to IGD. Read More

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http://dx.doi.org/10.1159/000491105DOI Listing
August 2018
3 Reads