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Am J Med Genet A 2019 Feb 17. Epub 2019 Feb 17.

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Here we report on a singleton patient affected by a complicated congenital syndrome characterized by growth delay, retinal dystrophy, sensorineural deafness, myopathy, ataxia, combined pituitary hormone deficiency, associated with mitochondrial impairment. Targeted clinical exome sequencing led to the identification of a homozygous missense variant in OTX2. Since only dominant mutations within OTX2 have been associated with cases of syndromic microphthalmia, retinal dystrophy with or without pituitary dysfunctions, this represents the first report of an OTX2 recessive mutation. Read More

Epilepsy Behav 2019 Feb 14. Epub 2019 Feb 14.

Clinical and Translational Science Center, Weill Cornell Medicine, 1300 York Avenue, New York, NY 10065, United States of America.

Depression affects a large proportion of patients with epilepsy, and is likely due in part to biological mechanism. Hormonal dysregulation due to the disruptive effects of seizures and interictal epileptiform discharges on the hypothalamic-pituitary-adrenal axis likely contributes to high rates of depression in epilepsy. This paper reviews the largely unexplored role of neuroendocrine factors in epilepsy-related depression, focusing on Growth Hormone (GH). Read More

Pak J Pharm Sci 2019 Jan;32(1):231-239

Selcuk University, Medical School, Department of Physiology, Konya, Turkey.

Zinc is essential in the regulation of a variety of physiological and biochemical events in the organism. It plays a critical role in maintaining the cell membrane integrity, protein-carbohydrate-lipid metabolism, immune system, wound injury and in the regulation of a number of other biological processes associated with normal growth and development. Physiological and biochemical levels of many hormones are affected by zinc metabolism. Read More

Endocrinol Diabetes Nutr 2019 Feb 13. Epub 2019 Feb 13.

Unidad de Endocrinología y Diabetes Pediátrica, Servicio de Pediatría, Hospital Universitario Ramón y Cajal, Universidad de Alcalá, Madrid, España.

Introduction: Treatment with recombinant human growth hormone (rhGH) has been shown to improve adult height in pediatric patients with GH deficiency (GHD). However, reassessment of patients after they reach their final height shows some of them have permanent GH deficiency (PGHD), while others had a transient deficiency (TGHD). The study objective was to assess, in a cohort of pediatric patients with GHD, potential differences in response to treatment with rhGH depending on whether deficiency is permanent or transient. Read More

PLoS One 2019 14;14(2):e0210891. Epub 2019 Feb 14.

University Hospital Geelong, Geelong, Victoria, Australia.

Background: This study evaluated the feasibility of achieving high response rates in stage II or III breast cancer by tailoring neoadjuvant therapy using clinical and histopathological features and the Oncotype DX Breast Recurrence Score. Genomic determinants of response and resistance were also explored.

Patients And Outcome Measures: Fifty-one patients were enrolled. Read More

Clin Chem Lab Med 2019 Feb 14. Epub 2019 Feb 14.

Biochemistry Laboratory, Bechir Hamza Children's Hospital, Bab Saadoun Square, Tunis, Tunisia.

J Clin Res Pediatr Endocrinol 2019 Feb 14. Epub 2019 Feb 14.

Sorbonne Université, INSERM, Centre de Recherche St-Antoine UMR S938, AP-HP, Trousseau Hospital, Department of Paediatric Endocrinology, 75012, Paris, France

Objective: IGF1 concentration is the most widely used parameter for the monitoring and therapeutic adaptation of recombinant human growth hormone (rGH) treatment. However, more than half the variation of the therapeutic response is accounted for by variability in the serum concentrations of IGF1 and IGFBP3. We therefore compared the use of IGF1/IGFBP3 molar ratio with that of IGF1 concentration alone. Read More

Int J Mol Sci 2019 Feb 12;20(3). Epub 2019 Feb 12.

Institute of Epidemiology and Medical Biometry, University of Ulm, D-89019 Ulm, Germany.

In the state of insulin deficiency, the growth hormone-insulin-like growth factor-I (GH⁻IGF-I) axis is altered due to hepatic GH resistance, which leads to GH hypersecretion and low circulating IGF-I concentration. On the other hand, both growth hormone deficiency (GHD) and GH excess have significant influence on carbohydrate metabolism. These complex interactions are challenging in diagnosing GHD in subjects with type 1 diabetes mellitus (T1DM) and in treating subjects with T1DM with GH. Read More

J Clin Endocrinol Metab 2019 Feb 7. Epub 2019 Feb 7.

Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague 5, Czech Republic.

Context: Familial short stature (FSS) is a term describing a growth disorder that is vertically transmitted. Milder forms may result from the combined effect of multiple genes, more severe short stature is suggestive of a monogenic condition. The etiology of most FSS cases has not been thoroughly elucidated to date. Read More

BMC Pediatr 2019 Feb 11;19(1):56. Epub 2019 Feb 11.

Post Graduate School of Pediatrics, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Via del Pozzo 71, 41124, Modena, Italy.

Background: Children with Sickle Cell Disease (SCD) show endocrine complications and metabolic alterations. The physiopathology of these conditions is not completely understood: iron overload due to chronic transfusions, ischemic damage, and inflammatory state related to vaso-occlusive crises may be involved. Aims of this study were to evaluate the growth pattern, endocrine complications, and metabolic alterations and to detect the relationship between these conditions and the SCD severity in affected children and adolescents. Read More

Acta Paediatr 2019 Feb 11. Epub 2019 Feb 11.

Department of Women's and Children's Health, Neuropediatric Unit, Karolinska Institutet, Stockholm, Sweden.

Aim: This study examined the prevalence of neurological impairment and pituitary hormone deficiency (PHD) in patients with unilateral and bilateral optic nerve hypoplasia (ONH).

Methods: A population-based cross-sectional cohort study of 65 patients (51% female) with ONH was conducted in Stockholm. Of these were 35 bilateral and 30 unilateral. Read More

J Inherit Metab Dis 2019 Jan;42(1):147-158

Metabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience, VU University Medical Center, Amsterdam, The Netherlands.

Background: Transaldolase deficiency (TALDO-D) is a rare autosomal recessive inborn error of the pentose phosphate pathway. Since its first description in 2001, several case reports have been published, but there has been no comprehensive overview of phenotype, genotype, and phenotype-genotype correlation.

Methods: We performed a retrospective questionnaire and literature study of clinical, biochemical, and molecular data of 34 patients from 25 families with proven TALDO-D. Read More

Nat Commun 2019 Feb 8;10(1):662. Epub 2019 Feb 8.

Department of Physiology and Biophysics, Institute of Biomedical Sciences, University of São Paulo, Av. Prof. Lineu Prestes, 1524, São Paulo, SP, 05508-000, Brazil.

Weight loss triggers important metabolic responses to conserve energy, especially via the fall in leptin levels. Consequently, weight loss becomes increasingly difficult with weight regain commonly occurring in most dieters. Here we show that central growth hormone (GH) signaling also promotes neuroendocrine adaptations during food deprivation. Read More

Pract Radiat Oncol 2019 Feb 4. Epub 2019 Feb 4.

Department of Radiation Oncology, Massachusetts General Hospital, Boston, Massachusetts. Electronic address:

Background: Patients undergoing cranial irradiation are at high risk for development of subsequent pituitary deficiencies. Patients with meningiomas can expect to live many years following treatment and are therefore particularly vulnerable to long-term sequalae of radiation therapy (RT). The purpose of this study was to determine the rates and timing of onset of pituitary dysfunction across each hypothalamic-pituitary axis in patients with meningiomas in the sellar region. Read More

Mol Genet Genomic Med 2019 Feb 6:e596. Epub 2019 Feb 6.

Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

Background: Heterozygous mutations in the AT-hook DNA-binding motif containing one (AHDC1, OMIM * 615790) gene cause an autosomal dominant multisystem developmental disorder known as Xia-Gibbs syndrome (OMIM #615829). Xia-Gibbs syndrome typically presented with global developmental delay, hypotonia, obstructive sleep apnea, seizures, delayed myelination, micrognathia, and other mild dysmorphic features.

Methods: Description of the clinical materials of two Chinese boys who were diagnosed with Xia-Gibbs syndrome based on clinical presentations and next generation sequencing. Read More

Curr Diabetes Rev 2019 Feb 6. Epub 2019 Feb 6.

Internal Medicine Department, Endocrinology unit,Ain Shams University hospitals,Cairo. Egypt.

Introduction: T1DM is considered the most common chronic metabolic autoimmune disorder in childhood and adolescence as well as in early adulthood. It appears frequently during 12-13 years of age with distinctive features like immune-mediated chronic damage of pancreatic β-cells, leading eventually to partial, or mostly, absolute insulin deficiency. Insulin-like growth factor 1 (IGF-1) is a polypeptide consisting of 70 amino acids with insulin-like chemical structure. Read More

Cardiovasc J Afr 2019 Jan 22;30:1-2. Epub 2019 Jan 22.

Department of Paediatric Endocrinology, Faculty of Medicine, Inonu University, Malatya, Turkey.

Laron syndrome, also known as growth hormone insensitivity, is an autosomal recessive disorder characterised by short stature due to mutations or deletions in the growth hormone receptor (GHR), leading to congenital insulin-like growth factor 1 (IGF1) deficiency. Cardiac abnormalities, such as patent ductus arteriosus or peripheral vascular disease are rare in patients with Laron syndrome, but cardiac hypertrophy has been observed after IGF1 therapy. In this report, we present a 10-year-and-5-month-old girl with severe peripheral-type pulmonary artery hypoplasia and Laron syndrome related to homozygous GHR c. Read More

J Clin Res Pediatr Endocrinol 2019 Feb 5. Epub 2019 Feb 5.

Istanbul University, Istanbul Faculty of Medicine, Pediatric Endocrinology Unit, Istanbul, TURKEY

Acid-labile subunit (ALS) forms ternary complexes with insulin like growth factor-1 (IGF-1) and IGF-binding protein-3 (IGFBP-3) and is essential for normal circulating IGF-1 levels. The IGFALS gene encodes the ALS, and mutations in IGFALS cause ALS deficiency. We describe a patient with ALS deficiency with a novel homozygous frameshift mutation in IGFALS presenting with short stature and delayed puberty but ultimately achieving an adult height (AH) comparable to his target height (TH). Read More

J Neuroendocrinol 2019 Feb 3:e12692. Epub 2019 Feb 3.

Pituitary Unit, Division of Endocrinology, Catholic University, School of Medicine, 00168, Rome, ; Italy.

Purpose: in patients with Growth Hormone Deficiency (GHD), low doses of recombinant human Growth Hormone (rhGH) have a similar or better long-term clinical effect than higher doses. Pharmacogenetic studies suggest that GH receptor (GHR) polymorphism influences only some metabolic parameters. Nonetheless there is no clear scientific evidence proving the effects of lower rhGH dose regimens on metabolic parameters. Read More

J Pediatr Endocrinol Metab 2019 Feb;32(2):159-165

Department of Medical and Surgical Sciences of Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.

Background Prader-Willi syndrome (PWS) is a genetic disorder due to loss of expression of paternally transcribed genes of the imprinted region of chromosome 15q11-13. PWS is characterized by peculiar signs and symptoms and many endocrine abnormalities have been described (growth hormone deficiency, hypogonadotropic hypogonadism). The abnormalities of thyroid function are discussed in literature and published data are discordant. Read More

Am J Med Genet A 2019 Jan 28. Epub 2019 Jan 28.

USDA/ARS Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Section of Pediatric Gastroenterology, Hepatology, and Nutrition, Texas Children's Hospital, Houston, Texas.

Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X chromosome. Short stature was previously noted to be a common finding in FDH, however the etiology of this is unclear. The present study sought to elucidate specific causes for short stature by assessing growth charts, determining bone ages and auxologic measurements, examining laboratory data for the common causes of growth failure, assessing dietary intake, and performing a growth hormone stimulation test. Read More

Ital J Pediatr 2019 Jan 28;45(1):17. Epub 2019 Jan 28.

Jiangbin Hospital Affiliated to Jiangsu University, Zhenjiang, China.

Background: Combined simultaneous arginine clonidine stimulation (CSACS) test represents a more appropriate stimulus to detect Ghrelin, for it does not affect glucose metabolism.

Methods: Fifty prepubertal children with dwarfism were recruited and further classified into normal growth hormone (NGH) and growth hormone deficiency (GHD) group with growth hormone (GH) peak cut-off value of 10 μg/l. In both groups, GH and Ghrelin serum levels were determined after the GH provocation test at 30, 60, and 120 min and the height standard deviation score (SDS) for bone age was measured six months later. Read More

Diabet Med 2019 Jan 28. Epub 2019 Jan 28.

Endocrinology and Diabetes Research Unit, Schneider Children's Medical Centre, Petah Tikva, Israel.

Aims: To determine the long-term risk of diabetes in a cohort of children treated with recombinant human growth hormone in Israel, using data from the Israeli National Diabetes Register.

Methods: Between 1988 and 2009, 2513 children were approved for growth hormone treatment. They were assigned to one of two groups. Read More

Cancer 2019 Jan 28. Epub 2019 Jan 28.

Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, Tennessee.

Background: The impact of growth hormone deficiency (GHD) on neurocognitive function is poorly understood in survivors of childhood acute lymphoblastic leukemia (ALL). This study examined the contribution of GHD to functional outcomes while adjusting for cranial radiation therapy (CRT).

Methods: Adult survivors of ALL (N = 571; 49% female; mean age, 37. Read More

Pituitary 2019 Jan 25. Epub 2019 Jan 25.

Faculty of Medicine of University of Porto, Porto, Portugal.

Purpose: Guidelines on pituitary incidentalomas evaluation and management are limited to adults since there are no data on this matter in the paediatric population. We aim to analyse the morphologic characteristics, hormonal profile and follow-up of these lesions in children.

Methods: We have searched for pituitary incidentalomas in the neuroimaging reports and electronic medical records of the Paediatric Endocrinology Clinic of our centre. Read More

J Clin Res Pediatr Endocrinol 2019 Jan 25. Epub 2019 Jan 25.

Department of Child Health, Cipto Mangunkusumo Hospital Jakarta, Universitas Indonesia

Isolated growth hormone deficiency (IGHD) type II is a rare autosomal dominant disorder characterized by severe short stature with low growth hormone level. Timely diagnosis is important for optimal results of recombinant human GH (rhGH) treatment and detection of additional pituitary deficiencies in affected relatives. A male child presented at the age of one year with severe proportionate short stature (-4. Read More

Int J Environ Res Public Health 2019 Jan 23;16(3). Epub 2019 Jan 23.

Paediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, 06132 Perugia, Italy.

To investigate growth hormone (GH) secretion at the transition age, retesting of all subjects who have undergone GH replacement therapy is recommended when linear growth and pubertal development are complete to distinguish between transitional and persistent GH deficiency (GHD). Early retesting of children with idiopathic and isolated GHD (i.e. Read More

J Pediatr Endocrinol Metab 2019 Feb;32(2):173-179

Unidade de Endocrinologia Genetica (LIM/25), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Faculdade de Medicina da USP (LIM-25), Av. Dr. Arnaldo, 455 5° andar sala 5340, CEP 01246-903 Sao Paulo, SP, Brazil.

Background When evaluating peripubertal short stature patients, the interpretation of insulin-like growth factor 1 (IGF-1) levels based on chronological age (CA) can be inaccurate due to the influence of sex steroids and, presently, there is no evidence to support the assessment of IGF-1 values according to bone age (BA) and pubertal status (PS). Our objective was to assess the discriminatory performance of IGF-1 levels based on CA, BA and PS in the diagnosis of growth hormone (GH) deficiency. Methods We evaluated IGF-1 levels from 154 peripubertal short stature patients classified as GH deficient (GHD, n=23) or non-GHD (n=131). Read More

Zhongguo Dang Dai Er Ke Za Zhi 2019 Jan;21(1):33-37

Department of Gastroenterology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310051, China.

Inflammatory bowel disease (IBD) is a chronic recurrent non-specific inflammatory disease in the intestinal tract. About 10%-56% of children with Crohn's disease and about 10% of children with ulcerative colitis have growth retardation. This study reports four adolescents with IBD and growth hormone deficiency who were diagnosed with Crohn's disease. Read More

Am J Med Genet A 2019 Mar 23;179(3):410-416. Epub 2019 Jan 23.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.

We report three patients with Feingold 2 syndrome with the novel features of growth hormone deficiency associated with adenohypophyseal compression, aortic dilation, phalangeal joint contractures, memory, and sleep problems in addition to the typical features of microcephaly, brachymesophalangy, toe syndactyly, short stature, and cardiac anomalies. Microdeletions of chromosome 13q that include the MIR17HG gene were found in all three. One of the patients was treated successfully with growth hormone. Read More

Oxid Med Cell Longev 2018 19;2018:9582319. Epub 2018 Dec 19.

Dept. of Advanced Biomedical Sciences, Federico II University, Napoli, Italy.

Vitamin D deficiency contributes to cardiovascular risk (CVR), with hyperparathyroidism advocated as a putative mechanism. Indeed, mounting evidence supports the hypothesis that parathyroid hormone (PTH) impairs endothelial function, even though mechanisms are not fully elucidated. The present study was designed to verify the ability of sustained exposure to PTH to cause endothelial dysfunction, exploring the underlying mechanisms. Read More

Crit Rev Oncol Hematol 2019 Jan 3;133:129-141. Epub 2018 Nov 3.

Princess Máxima Centre for Pediatric Oncology, Utrecht, the Netherlands.

Over the past decades, survival rates of childhood cancer have increased considerably from 5 to 30% in the early seventies to current rates exceeding 80%. This is due to the development of effective chemotherapy, surgery, radiotherapy and stem cell transplantation, combined with an optimized stratification of therapy and better supportive care regimens. As a consequence, active surveillance strategies of late sequelae have been developed to improve the quality of survival. Read More

Psychoneuroendocrinology 2018 Dec 21;103:67-75. Epub 2018 Dec 21.

China-USA Neuroimaging Research Institute, Radiology Department of the Second Affiliated Hospital and Yuying Children's Hospital, Wenzhou Medical University, 325027, Wenzhou, Zhejiang, China. Electronic address:

Purpose: The aim of the present study was to investigate the differences in the topological organization of functional brain networks between children with growth hormone deficiency (GHD) and those with idiopathic short stature (ISS).

Methods: Thirty-one children with GHD and fifty-three children with ISS were recruited based on the results of GH stimulation tests. Resting-state fMRI data were acquired from all children. Read More

J Endocrinol 2019 Jan 1. Epub 2019 Jan 1.

R Roghair, Pediatrics, University of Iowa, Iowa City, 52242, United States.

Consistent with the paradigm shifting observations of David Barker and colleagues that revealed a powerful relationship between decreased weight through 2 years of age and adult disease, intrauterine growth restriction (IUGR) and preterm birth are independent risk factors for the development of subsequent hypertension. Animal models have been indispensable in defining the mechanisms responsible for these associations and the potential targets for therapeutic intervention. Among the modifiable risk factors, micronutrient deficiency, physical immobility, exaggerated stress hormone exposure and deficient trophic hormone production are leading candidates for targeted therapies. Read More

Endocr Pract 2019 Jan 18. Epub 2019 Jan 18.

From: 1. Department of Endocrinology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China; #1 You-Yi Rd, Yu-zhong District, Chongqing 400016, Chongqing, China.

Objective: Adult growth hormone deficiency (AGHD) patients have an increased cardiovascular morbidity and mortality. Adipsin as an adipokine that is significantly correlated with metabolism disease, especially in people with obesity. The objective of our study was to compare AGHD patients with healthy subjects to evaluate whether adipsin levels are closely related to glycolipid metabolism and cardiovascular risks in AGHD patients. Read More

Acta Biomed 2019 Jan 15;89(4):481-489. Epub 2019 Jan 15.

Quisisana Hospital, Ferrara.

In adult thalassemia major (TM) patients, a number of occult and emerging endocrine complications, such as: central hypothyroidism (CH), thyroid cancer, latent hypocortisolism, and growth hormone deficiency (GHD) have emerged and been reported. As the early detection of these complications is essential for appropriate treatment and follow-up, the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A) promoted a survey on these complications in adult TM patients, among physicians (pediatricians, hematologists and endocrinologists) caring for TM patients in different countries. The data reported by 15 countries are presented. Read More

J Steroid Biochem Mol Biol 2019 Jan 14. Epub 2019 Jan 14.

Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University, Linz, Austria. Electronic address:

Osteomalacia and rickets result from defective mineralization when the body is deprived of calcium. Globally, the main cause of osteomalacia is a lack of mineral supply for bone modeling and remodeling due to solar vitamin D and/or dietary calcium deficiency. Osteomalacia occurs when existing bone is replaced by unmineralized bone matrix (osteoid) during remodeling in children and adults, or when newly formed bone is not mineralized in time during modeling in children. Read More

Medicine (Baltimore) 2019 Jan;98(3):e14101

Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shuaifuyuan 1, Dong Cheng District, Beijing 100730, China.

Rationale: There are some reports about hypoxemia related to hypopituitarism. However, little is known about the relationship between growth hormone deficiency (GHD) and hypoxemia.

Patients Concerns: A 23-year-old female presented with severe hypoxemia after the operations of craniopharyngioma. Read More

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

Pituitary 2019 Jan 14. Epub 2019 Jan 14.

Memorial Kayseri Hospital, Endocrinology Clinic, Kayseri, Turkey.

Purpose: After traumatic brain injury was accepted as an important etiologic factor of pituitary dysfunction (PD), awareness of risk of developing PD following sports-related traumatic brain injury (SR-TBI) has also increased. However there are not many studies investigating PD following SR-TBIs yet. We aimed to summarize the data reported so far and to discuss screening algorithms and treatment strategies. Read More

Pituitary 2019 Jan 14. Epub 2019 Jan 14.

Department of Endocrinology and Metabolism, Yeditepe University Medical School, Istanbul, Turkey.

Introduction: The prevalence of pituitary dysfunction is high following aneurysmal subarachnoid hemorrhage (aSAH) and when occurs it may contribute to residual symptoms of aSAH such as decreased cognition and quality of life. Hypopituitarism following aSAH may have non-specific, subtle symptoms and potentially serious consequences if remained undiagnosed.

Methods: We reviewed the literature on epidemiology, pathophysiology, diagnostic methods and management of neuroendocrine changes after aSAH as well as on the impact of pituitary dysfunction on outcome of the patient. Read More

J Clin Res Pediatr Endocrinol 2019 Jan 11. Epub 2019 Jan 11.

Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Institute for Pediatric Research, Shanghai, China.

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked disease caused by PHF6 mutations. Classic BFLS is featured by intellectual disability (ID), developmental delay (DD), obesity, epilepsy, characteristic face and anomalies of fingers and toes. Endocrinological phenotypes and relevant outcome of treatment in this condition remains to be delineated. Read More

BMC Med Genomics 2019 Jan 9;12(1). Epub 2019 Jan 9.

Laboratory of Human Genetics, Department of Health Sciences, Università del Piemonte Orientale, Via Solaroli 17, 28100, Novara, Italy.

Background: Mutations of SHOX represent the most frequent monogenic cause of short stature and related syndromes. The genetic alterations include point mutations and deletions/duplications spanning both SHOX and its regulatory regions, although microrearrangements are confined to either the downstream or upstream enhancers in many patients. Mutations in the heterozygous state have been identified in up to 60-80% of Leri-Weill Dyschondrosteosis (LWD; MIM #127300) and approximately 4-5% of Idiopathic Short Stature (ISS; MIM#300582) patients. Read More

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

J Clin Transl Endocrinol 2019 Mar 31;15:54-61. Epub 2018 Dec 31.

Department of Clinical and Experimental Medicine, University of Messina, Italy.

One-hundred four persons aged ≥ 18 years (62 males and 42 females) who were admitted for traumatic brain injury (TBI) underwent brain computed tomography (CT) scan and assay of serum cortisol, insulin-like growth factor 1 (IGF-1), thyrotropin (TSH) and free thyroxine (FT4). The main purpose was to assess any gender difference and the rate of empty sella (ES). Women were more likely to have empty sella (19/42 [45. Read More

Endocr Metab Immune Disord Drug Targets 2019 Jan 1. Epub 2019 Jan 1.

Cardiology Unit, Cardiothoracic Department, Policlinic University Hospital, Bari. Italy.

Background And Objective: Cardiovascular disease is the most important cause of morbidity and mortality worldwide, with a significant economic burden, which is expected to increase in the next years. Alongside the management of cardiac manifestations and major risk factors for atherosclerosis, great attention has been paid to the role of comorbidities in initiating and worsening cardiac conditions.

Methods: The cardiovascular impact of a broad spectrum of endocrine disorders has been evaluated, with particular regard to their effects on cardiac function and cardiovascular prognosis in affected patients. Read More

J Endocr Soc 2019 Jan 12;3(1):171-180. Epub 2018 Dec 12.

Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

Context: () mutations cause X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) in affected male patients. Affected individuals typically present with early-onset adrenal insufficiency and develop HH during puberty. Rare cases can present with late-onset adrenal insufficiency or other unusual phenotypes. Read More

Front Endocrinol (Lausanne) 2018 17;9:723. Epub 2018 Dec 17.

Max Planck Institute of Psychiatry, Munich, Germany.

Growth hormone deficiency (GHD) results in an impaired health-related quality of life (HrQoL) and cognitive impairment in the attention and memory domain. GHD is assumed to be a frequent finding after brain injury due to traumatic brain injury (TBI), aneurysmal subarachnoid hemorrhage (SAH) or ischemic stroke. Hence, we set out to investigate the effects of growth hormone (GH) replacement therapy in patients with isolated GHD after brain injury on HrQoL, cognition, and abdominal fat composition. Read More

Nan Fang Yi Ke Da Xue Xue Bao 2018 Dec;38(12):1427-1432

First Affiliated Hospital, Anhui University of Chinese Medicine, Heifei 230000, China.

Objective: To observe the effect of Ronghuang granule on serum fibroblast growth factor 23 (FGF23), fibroblast growth factor receptor (FGFRs) and Klotho protein levels in non-dialysis patients with chronic kidney disease-mineral and bone disorder (CKD-MBD) and kidney deficiency and damp heat syndrome.

Methods: Seventy non-dialysis CKD-MBD patients with kidney deficiency and dampness-heat syndrome were randomized into control group (=35) and treatment group (=35). All the patients were given routine treatment combined with traditional Chinese medicine retention enema, and the patients in the treatment group received additional Ronghuang granule treatment (3 times a day). Read More