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Endocr Pract 2019 Apr;25(4):340-352

To describe outcomes of patients with giant prolactinoma (≥4 cm) and identify predictors of therapeutic response. In this retrospective study, complete biochemical and structural response were defined as prolactin (PRL) ≤25 ng/mL and no visible tumor at follow-up, respectively. Giant prolactinoma (median size, 4. Read More

Exp Ther Med 2019 May 13;17(5):3689-3693. Epub 2019 Mar 13.

Department of Pediatrics, The Affiliated Wuxi No. 2 People's Hospital of Nanjing Medical University, Wuxi, Jiangsu 214000, P.R. China.

Correlation between the value of insulin-like growth factor-1 (IGF-1) in the diagnosis of dwarfism and the levels of growth hormone (GH) and insulin-like growth factor binding protein-3 (IGFBP-3) was investigated. From April 2014 to June 2017, 122 children with dwarfism who were treated in The Affiliated Wuxi No. 2 People's Hospital of Nanjing Medical University and The First Affiliated Hospital of Xinxiang Medical University were selected as the experimental group, and 51 normal children as the control group. Read More

Int J Mol Sci 2019 Apr 16;20(8). Epub 2019 Apr 16.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Piazza Lucio Severi 1, 06132 Perugia, Italy.

Growth hormone deficiency (GHD) can be present from the neonatal period to adulthood and can be the result of congenital or acquired insults. In addition, GHD can be classified into two types: isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD). CPHD is a disorder characterized by impaired production of two or more anterior and/or posterior pituitary hormones. Read More

Front Endocrinol (Lausanne) 2019 28;10:193. Epub 2019 Mar 28.

Department of Endocrinology and Metabolism, Institute of Endocrinology, Liaoning Provincial Key Laboratory of Endocrine Diseases, The First Affiliated Hospital of China Medical University, Shenyang, China.

Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder, characterized by reduced bone content, fractures and skeletal malformation due to abnormal synthesis or dysfunction of type I collagen protein. Pituitary stalk interruption syndrome (PSIS) is usually associated with environmental and hereditary factors. Here, we report a rare case of OI and PSIS co-occurrence. Read More

J Biol Chem 2019 Apr 12. Epub 2019 Apr 12.

Cardiovascular and Metabolic Disorders Program, Duke NUS Medical School, Singapore.

Primary hyperparathyroidism (PHPT) is a common endocrinopathy characterized by hypercalcemia and elevated levels of parathyroid hormone. The primary cause for PHPT is a benign overgrowth of parathyroid tissue causing excessive secretion of parathyroid hormone. However, the molecular etiology of PHPT is incompletely defined. Read More

Clin Endocrinol (Oxf) 2019 Apr 11. Epub 2019 Apr 11.

Dutch Growth Research Foundation, Rotterdam, The Netherlands.

Objective: Some features of subjects with Prader-Willi syndrome (PWS) resemble those seen in growth hormone deficiency (GHD). Children with PWS are treated with growth hormone (GH), which has substantially changed their phenotype. Currently, young adults with PWS must discontinue GH after attainment of adult height when they do not fulfill the criteria of adult GHD. Read More

Molecules 2019 Apr 9;24(7). Epub 2019 Apr 9.

National Institutes for Food and Drug Control, No. 2, Tiantan Xili, Beijing 100050, China.

The long-acting growth hormone (LAGH) is a promising alternative biopharmaceutical to treat growth hormone (GH) deficiency in children, and it was developed using a variety of technologies by several pharmaceutical companies. Most LAGH preparations, such as Fc fusion protein, are currently undergoing preclinical study and clinical trials. Accurate determination of bioactivity is critical for the efficacy of quality control systems of LAGH. Read More

Endocr Res 2019 Apr 10:1-6. Epub 2019 Apr 10.

a Department of Endocrinology , Peking Union Medical College Hospital, Key Laboratory of Endocrinology, Ministry of Health , Beijing , China.

Objective: Pituitary hormones are critical for bone development and maturation. It is currently unknown whether congenital multiple pituitary hormone deficiency (CMPHD) is associated with osteonecrosis of femoral head (ONFH).

Methods: Clinical presentations and hormonal profiles of three patients with CMPHD and ONFH were retrospectively described. Read More

J Endocr Soc 2019 Apr 20;3(4):838-846. Epub 2019 Feb 20.

Division of Pediatric Endocrinology and Diabetes, Mount Sinai Kravis Children's Hospital, Icahn School of Medicine at Mount Sinai, New York, New York.

Cortisol and growth hormone (GH) deficiencies are causes of neonatal hypoglycemia. When they coexist, a pituitary disorder is suspected. We present an infant with hypoglycemia in whom an ACTH receptor defect was associated with transient GH deficiency. Read More

J Ovarian Res 2019 Apr 4;12(1):31. Epub 2019 Apr 4.

Present Address: Department of Obstetrics & Gynecology, Sapporo Medical University, South 1 West 16, Sapporo, Hokkaido, 060-8543, Japan.

Hyperandrogenism is one of the cardinal symptoms in polycystic ovary syndrome and plays a key role in the pathogenesis of polycystic ovary syndrome. However, the precise effects and mechanisms of excess androgen during follicular development are still unclear. Here we investigated the effects of androgen on mouse follicle development in vitro. Read More

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

Medicine (Baltimore) 2019 Apr;98(14):e14962

Department of Pediatrics, Hallym University College of Medicine, Chuncheon-si, Gangwon-do.

To investigate the progression rate of bone age (BA) and associated factors during the first 3 years of growth hormone (GH) treatment in children with idiopathic GH deficiency (iGHD) and idiopathic short stature (ISS).Data for prepubertal children with iGHD and ISS who were treated with recombinant human GH were obtained from the LG Growth Study Database and analyzed. Height, weight, BA, insulin-like growth factor-1 (IGF-1) level, and GH dose were recorded every 6 months. Read More

J Genet 2019 Mar;98(1)

Department of Endocrinology, Metabolism, and Genetics, Nanchang 330006, People's Republic of China.

Insulin-like growth factor receptor (IGF-1R) deficiency is a rare form of short stature, and is difficult to clinically diagnose. Targeted next-generation sequencing (NGS) allows for the rapid and inexpensive assessment of short stature. We identified mutations in the pedigree of a Chinese boy with severe short stature using targeted NGS; we then assessed the clinical characteristicsand evaluated the efficacy of growth hormone therapy. Read More

Ann Pediatr Endocrinol Metab 2019 Mar 31;24(1):60-63. Epub 2019 Mar 31.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Deletion on the short arm of chromosome 18 is a rare disorder characterized by intellectual disability, growth retardation, and craniofacial malformations (such as prominent ears, microcephaly, ptosis, and a round face). The phenotypic spectrum is wide, encompassing a range of abnormalities from minor congenital malformations to holoprosencephaly. We present a case of a 2-year-old girl with ptosis, a round face, broad neck with low posterior hairline, short stature, and panhypopituitarism. Read More

Front Endocrinol (Lausanne) 2019 19;10:149. Epub 2019 Mar 19.

Department of Pediatrics, University Medical Center, Amiens, France.

The aim of this study was to evaluate the frequency of hypopituitarism following TBI in a cohort of children who had been hospitalized for mild TBI and to identify the predictive factors for this deficiency. A prospective study was conducted on children between 2 and 16 years of age who had been hospitalized for mild TBI according to the Glasgow Coma Scale between September 2009 and June 2013. Clinical parameters, basal pituitary hormone assessment at 0, 6, and 12 months, as well as a dynamic testing (insulin tolerance test) 12 months after TBI were performed. Read More

J Clin Med 2019 Mar 25;8(3). Epub 2019 Mar 25.

Department of Urology, Korea University Guro Hospita, l No. 148, Gurodong-ro, Guro-gu, Seoul 08308, Korea.

Testosterone is an essential hormone required for the developmental growth and maintenance of the male phenotype during the whole life. With the increasing male life expectancy worldwide and development of adequate testosterone preparations, the prescription of testosterone has increased tremendously. Testosterone replacement should be based on low serum testosterone and related clinical symptoms. Read More

Front Pharmacol 2019 15;10:173. Epub 2019 Mar 15.

Center of Endocrinology, Genetics and Metabolism, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.

Background: 5α-reductase type 2 deficiency (5αRD) is an autosomal recessive hereditary disease of the group of 46, XY disorders of sex development (DSD).

Objective: To study the growth pattern in Chinese pediatric patients with 5αRD.

Subjects: Data were obtained from 141 patients with 5αRD (age: 0-16 years old) who visited eight pediatric endocrine centers from January 2010 to December 2017. Read More

Pituitary 2019 Mar 30. Epub 2019 Mar 30.

Medical Faculty, University of Belgrade, Dr Subotica 8, Belgrade, 11000, Serbia.

Traumatic brain injury (TBI) causes substantial neurological disabilities and mental distress. Annual TBI incidence is in magnitude of millions, making it a global health challenge. Categorization of TBI into severe, moderate and mild by scores on the Glasgow coma scale (GCS) is based on clinical grounds and standard brain imaging (CT). Read More

Pituitary 2019 Mar 29. Epub 2019 Mar 29.

Department of Laboratory Medicine, Division of Pathology, St Michael's Hospital, University of Toronto, Toronto, ON, Canada.

Purpose: Traumatic brain injury most commonly affects young adults under the age of 35 and frequently results in reduced quality of life, disability, and death. In long-term survivors, hypopituitarism is a common complication.

Results: Pituitary dysfunction occurs in approximately 20-40% of patients diagnosed with moderate and severe traumatic brain injury giving rise to growth hormone deficiency, hypogonadism, hypothyroidism, hypocortisolism, and central diabetes insipidus. Read More

Medicine (Baltimore) 2019 Mar;98(13):e14987

Department of Surgery, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.

Rationale: Glucose 6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic disorder of red blood cells that cause hemolytic anemia. Some anticancer drugs are reported to trigger oxidative stress; however, events of hemolysis are rarely discussed in patients with G6PD deficiency required oncologic treatments.

Patient Concerns: Here we reported a young woman with G6PD deficiency safely undergoing breast cancer treatment. Read More

Endocrinology 2019 Mar 28. Epub 2019 Mar 28.

Graduate School of Bioagricultural Sciences, Nagoya University, Nagoya, Aichi, Japan.

Aberrant exposure to estrogen-like compounds during the critical developmental period may cause improper hypothalamic programming, thus resulting in reproductive dysfunction in adulthood in male mammals. Kisspeptin-neurokinin B (NKB)-dynorphin A (Dyn) (KNDy) neurons in the arcuate nucleus (ARC) have been suggested to govern tonic gonadotropin-releasing hormone (GnRH)/gonadotropin release to control reproduction in male mammals. Here we report that chronic exposure to supra-physiological levels of estrogen during the neonatal period caused an irreversible suppression of KNDy genes in the ARC, resulting in reproductive dysfunction in male rats. Read More

Bone 2019 Mar 23;124:14-21. Epub 2019 Mar 23.

Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA.

B4GALT7 encodes beta-1,4-galactosyltransferase which links glycosaminoglycans to proteoglycans in connective tissues. Rare, biallelic variants in B4GALT7 have been associated with spondylodysplastic Ehlers-Danlos and Larsen of Reunion Island syndromes. Thirty patients with B4GALT7-related disorders have been reported to date with phenotypic variability. Read More

Isr Med Assoc J 2019 Mar;21(3):189-193

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

Background: Treatment of patients with childhood growth hormone deficiency is usually terminated at the end of puberty. Follow-up into adult age is rare, even more so in patients with congenital isolated growth hormone deficiency (cIGHD).

Objectives: To assess the clinical and social characteristics of adults with cIGHD who received growth hormone (hGH) treatment in childhood. Read More

J Matern Fetal Neonatal Med 2019 Mar 21:1-181. Epub 2019 Mar 21.

a Department of Pediatrics , Institute of Clinical Sciences , University of Gothenburg , Gothenburg , Sweden.

Background: Boys born small for gestational age (SGA) are at increased risk of testicular dysgenesis syndrome, and girls born SGA face the risk of polycystic ovary syndrome later in life. Our aim was to study whether neonates born SGA have an altered profile of steroid hormones at birth.

Materials And Methods: A total of 168 singletons (99 boys, 69 girls) born at 32. Read More

J Transl Med 2019 Mar 18;17(1):87. Epub 2019 Mar 18.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Piazza Menghini 1, 06129, Perugia, Italy.

Background: Human growth is a complex mechanism that depends on genetic, environmental, nutritional and hormonal factors. The main hormone involved in growth at each stage of development is growth hormone (GH) and its mediator, insulin-like growth factor 1 (IGF-1). In contrast, vitamin D is involved in the processes of bone growth and mineralization through the regulation of calcium and phosphorus metabolism. Read More

Health Qual Life Outcomes 2019 Mar 18;17(1):49. Epub 2019 Mar 18.

Center for Psychosocial Medicine, Institute for Medical Psychology, University Medical Center Hamburg-Eppendorf in Hamburg, Hamburg, Germany.

Background: The Quality of Life of Short Stature Youth (QoLISSY) questionnaire is a patient- and parent-reported outcome measure assessing health-related quality of life (HRQOL) in short stature youth. This study evaluates the psychometric properties of the QoLISSY questionnaire within a German prospective trial of short statured children treated with human growth hormone (hGH).

Method: The instrument was administered to children with idiopathic growth hormone Deficiency (IGHD) and small for gestational age (SGA) before and after 12 month of hGH treatment. Read More

Eur J Endocrinol 2019 Mar 1. Epub 2019 Mar 1.

M Polak, Endocrinology, Diabetology and Gynecology Unit, Hopital universitaire Necker-Enfants malades, Paris, France.

Objectives: Childhood traumatic brain injury (TBI) is a public health issue. Our objectives were to determine the prevalence of permanent pituitary hormone deficiency and to detect the emergence of other pituitary dysfunctions or central precocious puberty several years after severe TBI.

Design: Follow-up at least five years post severe TBI of a prospective longitudinal study. Read More

Clin Endocrinol (Oxf) 2019 Mar 15. Epub 2019 Mar 15.

Department of Endocrinology, Leeds Centre for Diabetes & Endocrinology, St James's University Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK.

Background: Childhood brain tumour survivors who receive cranial radiotherapy undergo regular surveillance for the development ofhypothalamic-pituitary (HP) axis dysfunction. Much less attention has been given to radiation-induced hypopituitarism in patients with malignant brain tumours of adult onset.

Design: Retrospective cohort study. Read More

J Pediatr Hematol Oncol 2019 Mar 11. Epub 2019 Mar 11.

Biochemistry Laboratory, UR12ES17 Sfax Medicine School.

Background: Typically, patients with Acid Sphingomyelinase Deficiency (ASMD) because of p.Arg610del mutation, have mild phenotype with normal linear growth.

Observation: We reported the case of 2 Tunisian brothers who have been referred for splenomegaly, polyadenopathies, pubertal, and growth delay. Read More

Clin Sci (Lond) 2019 Mar 25;133(6):777-788. Epub 2019 Mar 25.

Department of Electronic Science, Fujian Provincial Key Laboratory of Plasma and Magnetic Resonance, Xiamen University, Xiamen 361005, China

The diagnosis of short stature (SS) is of widespread importance for later treatment. In the present paper, a metabolomic method was used to analyze the metabolic characteristics of SS children caused by endocrine metabolic diseases in order to understand the underlying biochemical mechanism and provide a potential intervention strategy for SS. According to the clinical diagnosis and family investigation, all patients with SS were confirmed to be due to the endocrine disorders, especially GH deficiency (GHD). Read More

Endocr Pract 2019 Mar 13. Epub 2019 Mar 13.

From: 1Department of Endocrine and Metabolic Diseases, Rui-jin Hospital, Shanghai Jiao-tong University School of Medicine, Shanghai Institute of Endocrine and Metabolic Diseases, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai, China. 200025.

Objective: To summarize the characteristics of patients with pituitary stalk thickening, analyze the association between pituitary stalk width and hypopituitarism, and develop a diagnostic model to differentiate neoplastic and inflammatory origins.

Methods: 325 patients with pituitary stalk thickening in a tertiary teaching hospital between January 2012 and February 2018 were enrolled. Basic characteristics and hormonal status were evaluated. Read More

Met Ions Life Sci 2019 Jan;19

A dynamic interplay between the host and pathogen determines the course and outcome of infections. A central venue of this interplay is the struggle for iron, a micronutrient essential to both the mammalian host and virtually all microbes. The induction of the ironregulatory hormone hepcidin is an integral part of the acute phase response. Read More

J Ethnopharmacol 2019 May 5;236:108-113. Epub 2019 Mar 5.

Department of Herbal Pharmacology, College of Korean Medicine, Kyung Hee University, 26 Kyungheedae-ro, Dongdaemun-gu, Seoul, 02447, Republic of Korea. Electronic address:

Ethnopharmacological Relevance: According to traditional Korean medicine theory in which children's growth retardation is attributed to blood deficiency, Siwu decoction (SWD), a representative treatment for blood deficiency, was chosen as a sample.

Aim Of The Study: To evaluate the effects of SWD on chondrocyte proliferation of growth plate in adolescent female rats.

Materials And Methods: Female adolescent rats were allocated to one of the following four groups; SWD 100 and 300 mg/kg, recombinant human growth hormone, and vehicle for 4 days. Read More

J Pediatr Endocrinol Metab 2019 Mar;32(3):225-231

Pediatric Nephrology Unit, Ha' Emek Medical Center, Afula, Israel.

Background Bartter syndrome is a group of rare autosomal-recessive renal disorders characterized by hypokalemic hypochloremic metabolic alkalosis associated with severe growth failure; the exact causes for growth retardation are unclear. GH deficiency (GHD) has been reported in a few cases of Bartter syndrome. The aim of our study was to determine the prevalence of GHD in children with antenatal Bartter syndrome and to assess their response to GH therapy. Read More

J Endocrinol Invest 2019 Mar 6. Epub 2019 Mar 6.

Center for Psychosocial Medicine, Institute for Medical Psychology, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.

Purpose: Little attention has been directed towards examining the impact of predictors on change in health-related quality of life (HRQOL) within the course of growth hormone (GH) treatment in pediatric short stature. We aimed to assess changes in HRQOL and its sociodemographic, clinical and psychosocial predictors in children and adolescents diagnosed with growth hormone deficiency (GHD), and born short for gestational age (SGA) before and 12-month after start of GH treatment from the parents' perspective. Results were compared with an untreated group with idiopathic short stature (ISS). Read More

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

J Neurosurg 2019 Mar 1:1-5. Epub 2019 Mar 1.

1Department of Neurological Surgery and.

OBJECTIVEHypothalamic-pituitary-adrenal (HPA) axis dysfunction is a well-documented complication of transsphenoidal craniotomy (TSC) for sellar lesions. The authors aimed to assess their multidisciplinary approach to the diagnosis and treatment of postoperative hypocortisolemia utilizing conservative screening methods.METHODSThe authors performed a retrospective review of 257 patients who underwent TSC for pituitary adenoma (PA) or Rathke cleft cyst (RCC) at the University of Southern California between 2012 and 2017. Read More

Endocr Connect 2019 Mar 1. Epub 2019 Mar 1.

M Korbonits, Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom of Great Britain and Northern Ireland.

Background: Aryl hydrocarbon receptor-interacting protein (AIP) is evolutionarily conserved and expressed widely throughout the organism. Loss-of-function AIP mutations predispose to young-onset pituitary adenomas. AIP co-localizes with growth hormone in normal and tumorous somatotroph secretory vesicles. Read More

J Dairy Sci 2019 May 1;102(5):4094-4104. Epub 2019 Mar 1.

Ruminant Nutrition and Physiology Laboratory, College of Animal Science and Technology, Shandong Agricultural University, Taian 271018, P. R. China. Electronic address:

To investigate the possible pathways of Met deficiency to depress milk protein synthesis, 4 lactating goats fitted with jugular vein, mammary vein, and carotid artery catheters and transonic blood flow detectors on the external pudic artery were used in a 4 × 4 Latin square experiment. Goats were fasted for 24 h followed by a 9-h intravenous infusion of an AA mixture plus glucose. Milk yield was recorded and samples were taken in h 2 to 8 of the infusion period, and mammary biopsy was performed in the last hour. Read More

Plant Sci 2019 Mar 21;280:283-296. Epub 2018 Dec 21.

Departamento de Genética, Universidade Federal do Rio de Janeiro (UFRJ), Instituto de Biologia, s/n Prédio do CCS, 2° andar-sala 93, Rio de Janeiro, RJ, 219410-970, Brazil. Electronic address:

Climate change increasingly threatens plant growth and productivity. Soybean (Glycine max) is one of the most important crops in the world. Although its responses to increased atmospheric carbon dioxide concentration ([CO]) have been previously studied, root molecular responses to elevated [CO] (E[CO]) or the combination/interaction of E[CO] and water deficit remain unexamined. Read More

Obes Rev 2019 Mar 1. Epub 2019 Mar 1.

Obesity Center CGG, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

Obesity is a worldwide growing problem. When confronted with obesity, many health care providers focus on direct treatment of the consequences of adiposity. We plead for adequate diagnostics first, followed by an individualized treatment. Read More

J Clin Res Pediatr Endocrinol 2019 Mar 1. Epub 2019 Mar 1.

Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy

Objective: To evaluate glucose metabolism and insulin sensitivity in children with idiopathic growth hormone (GH) deficiency treated with recombinant human GH (rhGH) and to identify possible risk factors for the development of glucose abnormalities in this population.

Methods: We retrospectively collected data from 101 patients (60 males, median age 10.4 years, 77 prepubertal), with confirmed GH deficiency, enrolled before starting rhGH and followed up for the first three years of treatment. Read More

Clin Endocrinol (Oxf) 2019 Feb 28. Epub 2019 Feb 28.

Department of Endocrinology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.

Objective: The importance of muscle mass has been emphasized in various studies, and growth hormone (GH) deficiency is tightly associated with lean mass loss. Therefore, we aimed to investigate the prevalence of low lean mass in patients with adult growth hormone deficiency (AGHD) who received or did not receive GH therapy.

Methods: In this retrospective study, we included patients diagnosed with AGHD by using the insulin tolerance test (ITT) in our hospital. Read More

Andrologia 2019 Feb 27:e13250. Epub 2019 Feb 27.

Medical Genetics Department, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

In this study, we aimed to determine androgen receptor (AR) and SRD5A2 gene mutations in 45 patients characterised by 46,XY Disorders of Sex Differentiation (DSD) signs with normal testicular development referred to the Children's Medical Center from February 2015 to September 2017. Karyotype and sex hormone analyses were performed. Cytogenetic investigation showed that seven patients were 46,XX DSD, six patients were chromosomal DSD and 32 patients were 46,XY DSD. Read More

IBRO Rep 2019 Jun 8;6:111-121. Epub 2019 Feb 8.

Department of Anesthesia, Division of Pain Management, Cincinnati Children's Hospital Medical Center, United States.

Injury during early postnatal life causes acute alterations in afferent function and DRG gene expression, which in addition to producing short-term sensitivity has the potential to influence nociceptive responses in adulthood. We recently discovered that growth hormone (GH) is a key regulator of afferent sensitization and pain-related behaviors during developmental inflammation of the skin. Peripheral injury caused a significant reduction in cutaneous GH levels, which corresponded with the observed hypersensitivity. Read More

J Exp Bot 2019 Mar;70(6):1927-1940

Department of Botany and Plant Pathology, Purdue University, West Lafayette, IN, USA.

Phosphate (Pi) deficiency severely influences the growth and reproduction of plants. To cope with Pi deficiency, plants initiate morphological and biochemical adaptive responses upon sensing low Pi in the soil, and the plant hormone ethylene plays a crucial role during this process. However, how regulation of ethylene biosynthesis influences the Pi-induced adaptive responses remains unclear. Read More

Int J Endocrinol 2019 21;2019:2172137. Epub 2019 Jan 21.

Department of Paediatric Endocrinology and Diabetology with Endocrine-Metabolic Laboratory, Medical University of Lublin, Poland.

Vitamin D deficiency is a common risk factor for multifactorial diseases, and it seems to be associated with growth hormone deficiency (GHD). Vitamin D could prevent dental caries. The goal of this study was to identify whether there is an association between hormonal therapy with growth hormone (GH), vitamin D supplementation, vitamin D levels, and the occurrence of caries among children affected by GHD. Read More

Cureus 2018 Dec 13;10(12):e3727. Epub 2018 Dec 13.

Neurology, Hospital Civil De Guadalajara "Fray Antonio Alcalde", Guadalajara, MEX.

Septo-optic dysplasia plus is a rare congenital syndrome characterized by the classic triad of optic nerve hypoplasia, hypothalamic-hypophyseal dysfunction, and midline abnormalities, with associated malformations of cortical development. Clinical manifestations include optic nerve disease, epilepsy, intellectual delay, and endocrine dysfunction. We present the case of an 18-year-old man with a history of seizures, growth hormone deficiency, and optic nerve disease that was diagnosed with septo-optic dysplasia plus syndrome with characteristic imaging findings. Read More

Case Rep Pediatr 2019 17;2019:7381597. Epub 2019 Jan 17.

Klinik für Kinder-und Jugendmedizin, Evangelisches Krankenhaus Lippstadt, Wiedenbrückerstr. 33, 59555 Lippstadt, Germany.

We present a case of a nearly 3-year-old girl who was admitted to hospital due to severe hypernatremia (196 mmol/l). Her medical history included central hypothyreosis and growth hormone deficiency. Rehydration and normalization of sodium was achieved according to guidelines. Read More

Mol Syndromol 2019 Jan 16;9(6):300-305. Epub 2018 Nov 16.

Department of Endocrinology, Growth and Development, Athens, Greece.

To date, 6 cases of 17p13.1 microduplications have been described in the literature. Intellectual disability is the core feature, together with minor facial dysmorphisms and obesity. Read More