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Am J Med Genet A 2020 Jul 2. Epub 2020 Jul 2.

Division of Research, The Focus Foundation, Davidsonville, Maryland, USA.

49,XXXXY is an X and Y chromosome variation that occurs in 1:85,000 to 1:100,000 live male births. Previous case studies have described boys with this disorder to be shorter than average when compared with boys with only one extra chromosome and with the mean stature in a small cohort reported to range from the seventh to 33rd percentile. The origin behind the possible differences in height between boys with 47,XXY and 49,XXXXY is currently unknown, however one study hypothesized that it was due to a difference in the expression of the SHOX gene. Read More

FASEB Bioadv 2020 Jun 10;2(6):365-381. Epub 2020 Jun 10.

Department of Matrix Medicine Faculty of Medicine Oita University Yufu Oita Japan.

Low bone mineral density (BMD)-diagnosed as osteoporosis or osteopenia-has been reported as a new characteristic feature of Fabry disease; however, the mechanism underlying the development of low BMD is unknown. We previously revealed that a mouse model of Fabry disease [] exhibits impaired functioning of medullary thick ascending limb (mTAL), leading to insufficient Ca reabsorption and hypercalciuria. Here, we investigated bone metabolism in mice without marked glomerular or proximal tubular damage. Read More

Endocrinol Metab (Seoul) 2020 Jun 24;35(2):272-287. Epub 2020 Jun 24.

Division of Endocrinology and Metabolism, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.

Growth hormone (GH) deficiency is caused by congenital or acquired causes and occurs in childhood or adulthood. GH replacement therapy brings benefits to body composition, exercise capacity, skeletal health, cardiovascular outcomes, and quality of life. Before initiating GH replacement, GH deficiency should be confirmed through proper stimulation tests, and in cases with proven genetic causes or structural lesions, repeated GH stimulation testing is not necessary. Read More

Ann Pediatr Endocrinol Metab 2020 Jun 30;25(2):126-131. Epub 2020 Jun 30.

1 Department of Pediatrics, Inje University Busan Paik Hospital, Busan, Korea.

Floating-Harbor syndrome is a rare autosomal dominant disorder that presents with short stature, facial dysmorphism, significantly delayed bone age, skeletal abnormalities, speech and language problems, and intellectual disabilities. Although short stature is one of the main clinical manifestations, use of growth hormone therapy in Floating-Harbor syndrome patients has been limited. Only a few reports have investigated the response to growth hormone therapy with regard to final adult height. Read More

Ann Pediatr Endocrinol Metab 2020 Jun 30;25(2):69-79. Epub 2020 Jun 30.

Department of Pediatrics, University of Chieti, Chieti, Italy.

Short stature is a common reason for referral to pediatric endocrinologists. Multiple factors, including genetic, prenatal, postnatal, and local environmental factors, can impair growth. The majority of children with short stature, which can be defined as a height less than 2 standard deviation score below the mean, are healthy. Read More

Clin Endocrinol (Oxf) 2020 Jun 30. Epub 2020 Jun 30.

Department of Endocrinology, Diabetes and Metabolism, Kitasato University, Sagamihara, Japan.

Objective: Somapacitan is a long-acting, reversible albumin-binding growth hormone (GH) derivative in development. This study aimed to evaluate the safety and efficacy of once-weekly somapacitan versus daily GH over 52 weeks in Japanese patients with adult growth hormone deficiency (AGHD).

Design: Phase 3, multicentre, randomised, parallel-group, open-label, active-controlled trial (NCT03075644). Read More

Eur Endocrinol 2020 Apr 5;16(1):60-64. Epub 2020 Feb 5.

Department of Endocrinology, Children's Mercy Hospital, University of Missouri-Kansas City (UMKC), Kansas City, MO, USA.

Background: The Growth Hormone Research Society recommends that all patients diagnosed with growth hormone deficiency (GHD) should undergo brain magnetic resonance imaging (MRI). This is still a point of controversy in patients with mild GHD, as the level of peak growth-hormone (GH) as a predictor of brain MRI abnormality has not yet been established. The objective of this study was to determine if peak GH level, determined by stimulation tests, can predict the presence or absence of brain MRI abnormality. Read More

J Clin Endocrinol Metab 2020 Jun 25. Epub 2020 Jun 25.

Department of Pediatrics, University of Texas Medical Branch, Galveston, TX, United States.

Context: Pituitary dysfunction with abnormal GH secretion and neurocognitive deficits are common consequences of traumatic brain injury (TBI). Recognizing the comorbidity of these symptoms is of clinical importance; however, efficacious treatment is currently lacking.

Evidence Acquisition: A review of studies in PubMed published between January 1980 to March 2020 and ongoing clinical trials was conducted using the search terms "growth hormone," "traumatic brain injury," and "gut microbiome. Read More

Front Plant Sci 2020 5;11:736. Epub 2020 Jun 5.

Department of Plant Sciences, Norwegian University of Life Sciences, Ås, Norway.

Shoot branching from axillary buds (AXBs) is regulated by a network of inhibitory and promotive forces, which includes hormones. In perennials, the dwarfed stature of the embryonic shoot inside AXBs is indicative of gibberellin (GA) deficiency, suggesting that AXB activation and outgrowth require GA. Nonetheless, the role of GA in branching has remained obscure. Read More

Endocr Connect 2020 Jun 1. Epub 2020 Jun 1.

A van Beek, Department of Endocrinology, University Medical Center Groningen, Groningen, Netherlands.

Introduction: Adult-onset growth hormone deficiency (AGHD) is usually the last deficiency to be substituted in hypopituitarism. In children with documented GH deficiency, treatment without delay is crucial for achieving optimal effects on growth and development. In adults, it is not known whether a delay in treatment initiation influences biochemical response and the favourable physiological effects resulting from GH replacement therapy (GHRT). Read More

Pediatr Endocrinol Diabetes Metab 2020 ;26(2):65-72

Department of Paediatrics and Paediatric Endocrinology, School of Medicine in Katowice, Medical University of Silesia, Poland.

Introduction: Diagnosis of growth hormone deficiency (GHD) in children with short stature, whose height is below -2SD for the population norm, is based on the assessment of growth hormone (GH) peaks in stimulation tests. However, cut-off values for GH secretion are arbitrary and vary in different centres. Indications for recombinant GH therapy remain disputable in children with GH concentrations between 5 and 10 ng/ml (pGHD). Read More

J Endocrinol Invest 2020 Jun 19. Epub 2020 Jun 19.

Department of Plastic Surgery, Cleveland Clinic, Cleveland Clinic Main Campus, Crile Building, 6th Floor, 9500 Euclid Ave, Cleveland, OH, 44195, USA.

Purpose: Charles II (1661-1700) was the last King of the Habsburg dynasty. He was physically and mentally disabled and died at just 39 years old. Here, the authors attempt to investigate the correlations between his signs and symptoms and the physical appearance on the painting. Read More

Hormones (Athens) 2020 Jun 17. Epub 2020 Jun 17.

Department of Exercise & Sport Science, University of North Carolina, Chapel Hill, NC, USA.

The purpose of this review is to present a different perspective of the relative energy deficiency syndrome, to improve understanding of associated endocrine alterations, and to highlight the need for further research in this area. The term "female athlete triad" was coined over 25 years ago to describe three interrelated components: disordered eating, menstrual dysfunction, and low bone mass. The syndrome's etiology is attributed to energy intake deficiency relative to energy expenditure required for health, function, and daily living. Read More

Arch Endocrinol Metab 2020 May-Jun;64(3):223-234

Ambulatório de Prader-Willi, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, SP, Brasil.

Prader-Willi syndrome (PWS) is a genetic disorder caused by the absence of gene expression in the 15q11.2-q13 paternal chromosome. Patients with PWS develop hypothalamic dysfunction that can lead to various endocrine changes such as: obesity, growth hormone deficiency, hypogonadism, hypothyroidism, adrenal insufficiency and low bone mineral density. Read More

Haematologica 2020 Jun 18. Epub 2020 Jun 18.

Department of Medicine, Medical College of Wisconsin, Milwaukee, WI, USA

With limited data comparing hematopoietic cell transplant outcomes between myeloablative total body irradiation (TBI) containing and non-TBI regimens in children with de novo acute myeloid leukemia, the aim of this study was to compare transplant-outcomes between these regimens. Cox regression models were used to compare transplant-outcomes after TBI and non-TBI regimens in 624 children transplanted between 2008 and 2016. Thirty two percent (n=199) received TBI regimens whereas 68% (n=425) received non-TBI regimens. Read More

Case Rep Med 2020 26;2020:4827072. Epub 2020 May 26.

Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

Growth hormone deficiency (GHD) in children has significant impacts on growth and metabolism. Two-agent GH stimulation tests are commonly used to diagnose GHD, and these tests are generally considered safe. We report the case of a 5-year 5-month-old boy with a history of anaplastic ependymoma who underwent GH stimulation testing for growth deceleration using clonidine and arginine. Read More

Open Access Rheumatol 2020 28;12:65-71. Epub 2020 May 28.

Internal Medicine Department, Imam Khomeini Hospital, Ardabil University of Medical Sciences (ARUMS), Ardabil, Iran.

Background And Aims: Familial Mediterranean fever (FMF) is a prototype of autoinflammatory disease and mainly associated with gene mutations. This single-center study as an experience represents FMF-coexisting disease in the FMF registration database.

Methods: Four hundred patients who had FMF based on clinical criteria (Tel-Hashomer) and/or mutations enrolled the study. Read More

Expert Opin Drug Deliv 2020 Jun 16:1-8. Epub 2020 Jun 16.

Merck Biopharma Quality, Ares Trading SA , Coinsins, Switzerland.

Objective: The Aluetta™ reusable pen device and instructions for use (IFU) for growth hormone (r-hGH; Saizen®, Merck KGaA, Darmstadt, Germany) administration were tested for Human-Factors Usability, to ensure it could be used safely and effectively by the intended users in the intended use environment.

Research Design And Methods: Usability testing was conducted under simulated conditions in three groups of participants: pediatric or adult patients with growth hormone deficiency (GHD), participants without GHD, and healthcare professionals (HCPs). The testing comprised a 45-minute training session, a 2-hour testing session, and a participant-feedback session. Read More

Protein Pept Lett 2020 Jun 16. Epub 2020 Jun 16.

Pituitary Unit, Division of Endocrinology and Diabetes, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome. Italy.

Acromegaly and Growth Hormone (GHD) deficiency are associated with skeletal fragility and with an increased prevalence of vertebral fractures (VFs). In the most recent years, several authors tried to investigate surrogate markers that may predict the risk of bone fragility in these endocrine disorders. The aim of this review is to evaluate the role of GH receptor polymorphisms in skeletal fragility in patients affected by GHD and acromegaly. Read More

Plant Sci 2020 Jul 20;296:110474. Epub 2020 Mar 20.

National Institute of Plant Genome Research, Aruna Asaf Ali Marg, New Delhi, 110067, India. Electronic address:

Brassinosteroids (BRs) are well-characterized growth hormones that are critical for plant growth, development, and productivity. Genetic and molecular studies have revealed the key components of BR biosynthesis and signaling pathways. The membrane-localized BR signaling receptor, BRASSINOSTEROID INSENSITIVE1 (BRI1) binds directly to its ligand and initiates series of signaling events that led to the activation of BR transcriptional regulators, BRASSINAZOLE RESISTANT1 (BZR1) and BRI1-ETHYL METHANESULFONATE-SUPPRESSOR1 (BES1/BZR2) to regulate the cellular processes. Read More

J Clin Res Pediatr Endocrinol 2020 Jun 16. Epub 2020 Jun 16.

Istanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Pediatric Endocrinology, Istanbul, Turkey.

Corticosterone methyloxidase deficiency type 2 is an autosomal recessive disorder presenting with salt loss and failure to thrive in early childhood. It is caused by inactivating mutations of the gene. Herein, we describe four Turkish patients from two families who have clinical and hormonal features compatible with corticosterone methyloxidase deficiency and inherit novel variants. Read More

Cold Spring Harb Mol Case Stud 2020 Jun 12;6(3). Epub 2020 Jun 12.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.

Mosaicism in Cornelia de Lange syndrome (CdLS) has been reported in clinically diagnosed CdLS patients with negative molecular testing using blood as the specimen, particularly in the gene. Here we report a novel mosaic variant in identified in the buccal swab DNA of a patient with a mild CdLS phenotype. Our patient presented with global developmental delay, dysmorphic features, microcephaly, and short stature, with no limb defect. Read More

Metabolism 2020 Jun 7;109:154290. Epub 2020 Jun 7.

Shandong Provincial Key Laboratory of Animal Cells and Developmental Biology, School of Life Sciences, Shandong University, Qingdao 266237, Shandong, China. Electronic address:

Background: Males absent on the first (Mof) is implicated in gene control of diverse biological processes, such as cell growth, differentiation, apoptosis and autophagy. However, the relationship between glucose regulation and Mof-mediated transcription events remains unexplored. We aimed to unravel the role of Mof in glucose regulation by using global and pancreatic α-cell-specific Mof-deficient mice in vivo and α-TC1-6 cell line in vitro. Read More

Zhonghua Er Ke Za Zhi 2020 Jun;58(6):455-460

Clin Endocrinol (Oxf) 2020 Jun 10. Epub 2020 Jun 10.

Department of Neonatology, University Children's Hospital, Tübingen, Germany.

Objective: Severe neonatal growth hormone deficiency (GHD) can cause recurrent hypoglycaemia. Early diagnosis is warranted. The aim of the study was to analyse the GH content in screening cards of 25 affected and 281 healthy newborns. Read More

Endocrine 2020 Jun 9. Epub 2020 Jun 9.

Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, 'Aghia Sophia' Children's Hospital, Athens, Greece.

Purpose: To describe the case of a 9-year-old male patient with neurofibromatosis type 1 (NF1), partial empty sella (PES), transient central adrenal insufficiency (CAI) and growth hormone (GH) deficiency (GHD) treated with recombinant GH (rGH).

Methods: The diagnosis of GHD was established upon peak GH response <10 ng/mL following glucagon and clonidine stimulation tests. CAI was diagnosed when peak cortisol response was <18 μg/dL following 1 μg Synacthen test (ST) with normal ACTH levels. Read More

Saudi Med J 2020 Jun;41(6):597-601

Department of Pediatrics, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia. E-mail.

Objectives: To assess bone mineral density (BMD) of children with short stature using quantitative ultrasound (QUS) and compare it to children with normal height. Methods: We conducted a descriptive, cross-sectional controlled study between May 2018 and February 2019 at various pediatric clinics in Jeddah, Saudi Arabia. In total, 219 children were included: 100 had short stature, and 119 were of normal height. Read More

Front Plant Sci 2020 20;11:438. Epub 2020 May 20.

Center for Bioscience Research and Education, Utsunomiya University, Utsunomiya, Japan.

Strigolactones (SLs) are essential host recognition signals for both root-parasitic plants and arbuscular mycorrhizal (AM) fungi in the rhizosphere, and SLs or their metabolites function as a novel class of plant hormones that regulate various aspects of plant growth through crosstalk with other hormones. Although nutrient availability is one of the important factors influencing SL production and exudation, and phosphate (Pi) deficiency significantly promotes SL production and exudation in host plants of AM fungi, how nutrient availability modulates SL production and exudation remains elusive. Cytokinin (CK), a canonical plant hormone, has extensively been studied as a shoot branching promoter and its biosynthesis is also influenced by mineral nutrients, especially nitrate, indicating that CK might be another key factor that affect SL production and exudation. Read More

J Endocrinol Invest 2020 Jun 7. Epub 2020 Jun 7.

Department of Internal Medicine and Medical Specialties (DiMI), Center of Excellence for Biomedical Research (CEBR), IRCCS AOU San Martino-IST, University of Genoa, Genoa, Italy.

Purpose: PATRO adults is an ongoing, multicenter, observational, post-marketing surveillance study aimed at investigating the long-term safety (primary endpoint) and effectiveness (secondary endpoint) of the recombinant human growth hormone (rhGH) Omnitrope® during routine clinical practice. This report describes data from Italian participants in PATRO Adults with growth hormone deficiency (GHD), up to August 2017.

Methods: Participants were adults (aged > 18 years) with GHD requiring rhGH therapy and were prescribed Omnitrope®, including those who had previously received another rhGH product. Read More

Zhongguo Zhong Yao Za Zhi 2020 May;45(10):2439-2445

Zhejiang Chinese Medical University Hangzhou 310053, China.

The aim of this paper was to study the effect of Wubi Shanyao Pills on sexual dysfunction in rats with kidney-Yang deficiency and to investigate its possible mechanism. Adenine(100 mg·kg~(-1)) was administered to male SD rats for 8 weeks to establish kidney-Yang deficiency model, and at the same time, Wubi Shanyao Pills(2, 1, 0.5 g·kg~(-1)) were administered to rats for 8 weeks. Read More

Pituitary 2020 Aug;23(4):432-456

Department of Endocrinology, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Oxford, OX3 7LE, UK.

Background: Survival rates among childhood cancer survivors (CCSs) have significantly risen in the last 40 years due to substantial improvements in treatment protocols. However, this improvement has brought with it serious late effects that frequently involve the endocrine system. Of the endocrine disorders, GH deficiency (GHD) is the most common among CCSs as a consequence of a history of cancers, surgery, and/or radiotherapy involving the hypothalamo-pituitary region. Read More

J Clin Endocrinol Metab 2020 Jul;105(7)

Erasmus University Medical Center / Sophia Children's Hospital, Rotterdam, The Netherlands.

Context: Children born prematurely have been treated with growth hormone (GH), and a significant improvement in height during the first years of treatment has been described.

Objective: To evaluate the influence of prematurity on near-adult height (NAH) after GH treatment.

Design: KIGS (Pfizer International Growth Database) was queried for children born preterm treated with GH. Read More

Physiol Rep 2020 Jun;8(11):e14434

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.

Iron-deficiency anemia is a potent stimulator of the phosphaturic hormone Fibroblast growth factor-23 (FGF23). Anemia, elevated FGF23, and elevated serum phosphate are significant mortality risk factors for patients with chronic kidney disease (CKD). However, the contribution of anemia to overall circulating FGF23 levels in CKD is not understood. Read More

J Nippon Med Sch 2020 May 30. Epub 2020 May 30.

Department of Pediatrics, Nippon Medical School Chiba Hokusoh Hospital.

Background: Since 2002, the Department of Pediatrics of Nippon Medical School Chiba Hokusoh Hospital has offered educational activities for children with short stature. We analyzed outcomes of growth hormone (GH) treatment for children with short stature treated at our hospital, particularly outcomes after the growth spurt.

Methods: We analyzed data from children aged 0 to 17 years who were treated with recombinant GH during the period from 2000 through 2016 and were followed for at least 2 years after the start of treatment. Read More

Ann Endocrinol (Paris) 2020 Mar 4. Epub 2020 Mar 4.

Service d'endocrinologie et des maladies de la reproduction, centre de référence des maladies rares de l'hypophyse, Assistance publique-hôpitaux de Paris, hôpital Bicêtre, 78, rue du Général-Leclerc, 94275, Le Kremlin-Bicêtre, France; Université Paris-Saclay, université Paris-Sud, Inserm, signalisation hormonale, physiopathologie endocrinienne et métabolique, 94276, Le Kremlin-Bicêtre, France. Electronic address:

Besides its effects on longitudinal growth in childhood and its metabolic effects with consequences on body composition and lipid levels, growth hormone (GH) has important roles on maintaining the structure and function of the normal adult heart. GH/insulin like growth factor-I (IGF-I) also interacts with the vascular system and plays a role in the regulation of vascular tone. GH deficiency (GHD) in adulthood is associated with increased fat mass (particularly visceral) and abnormal lipid profile, which may contribute to the excess cardiovascular mortality observed in patients with panhypopituitarism. Read More

Acta Anaesthesiol Scand 2020 May 29. Epub 2020 May 29.

Department of Anesthesiology and Pain Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Jongno-gu, Seoul, Korea.

Background: Anesthetic techniques can affect perioperative neuroendocrine function. The objective of this study was to compare 3-month post-operative neuroendocrine functional outcomes between sevoflurane and propofol anesthesia in patients undergoing endoscopic transsphenoidal surgery (ETS) for removal of non-functional pituitary adenomas (NFPAs) retrospectively.

Methods: Among 356 patients who underwent ETS for removal of NFPAs under sevoflurane-remifentanil anesthesia (sevoflurane group, n = 103) or propofol-remifentanil anesthesia (propofol group, n = 253), 92 patients in each group were selected and their 3-month post-operative neuroendocrine functional outcomes (primary outcome measure) were compared after propensity score matching. Read More

Cochrane Database Syst Rev 2020 05 28;5:CD012284. Epub 2020 May 28.

Department of Paediatrics, University of Malaya Medical Center, Kuala Lumpur, Malaysia.

Background: Thalassaemia is a recessively-inherited blood disorder that leads to anaemia of varying severity. In those affected by the more severe forms, regular blood transfusions are required which may lead to iron overload. Accumulated iron from blood transfusions may be deposited in vital organs including the heart, liver and endocrine organs such as the pituitary glands which can affect growth hormone production. Read More

Am J Med Genet A 2020 May 28. Epub 2020 May 28.

Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

Pathogenic variants in components of the minor spliceosome have been associated with several human diseases. Recently, it was reported that biallelic RNPC3 variants lead to severe isolated growth hormone deficiency and pituitary hypoplasia. The RNPC3 gene codes for the U11/U12-65K protein, a component of the minor spliceosome. Read More

Cochrane Database Syst Rev 2020 05 28;5:CD010858. Epub 2020 May 28.

Comprehensive Sickle Cell Program, Aflac Cancer and Blood Disorders Service, Emory University School of Medicine, Atlanta, Georgia, USA.

Background: Sickle cell disease (SCD) is a genetic chronic haemolytic and pro-inflammatory disorder. With increased catabolism and deficits in energy and nutrient intake, individuals with SCD suffer multiple macro- and micro-nutritional deficiencies, including vitamin D deficiency. This is an update of a previous review. Read More

Horm Res Paediatr 2020 May 27:1-12. Epub 2020 May 27.

Department of Endocrinology, Diabetes and Metabolism, University Children's Hospital, University Medical Center Ljubljana, Ljubljana, Slovenia,

Objective: The major part of craniopharyngioma (CP) morbidity is the tumor and/or treatment-related damage, which results in impaired function of the hypothalamic-pituitary axes and metabolic derangements. The aim of the study was to analyze the prevalence of long-term endocrine and metabolic comorbidities in a national cohort of CP patients based on the age at diagnosis and histology criteria.

Design: A retrospective-prospective longitudinal cohort analysis. Read More

Horm Res Paediatr 2020 May 26:1-10. Epub 2020 May 26.

Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service d'Endocrinologie Pédiatrique, Bron, France.

Background: FOXL2 is the gene involved in blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). There have been few single case reports of growth hormone deficiency (GHD) with this syndrome, and Foxl2 is known to be involved in pituitary development in mice. Our aim was to analyze the prevalence of FOXL2 gene alteration in a series of patients with congenital hypopituitarism and eyelid anomalies. Read More

Biol Blood Marrow Transplant 2020 May 21. Epub 2020 May 21.

Division of Hematology-Oncology and Stem Cell Transplantation, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Pediatric Endocrinology Unit, Department of Women's and Children's Health, Karolinska Institute and University Hospital, Stockholm, Sweden. Electronic address:

Male gonadal dysfunction is a frequent late effect after pediatric hematopoietic stem cell transplantation (HSCT), but detailed insight into patterns of male gonadal function at long-term is limited by retrospective studies without semen sample data. In this study, we investigated the risk of azoospermia and testosterone deficiency, the diagnostic value of markers of spermatogenesis, and paternity at long-term follow-up after pediatric allogeneic HSCT. All male HSCT survivors age ≥18 years, transplanted in Denmark or Finland between 1980 and 2010, were invited to participate in this cross-sectional study. Read More

Pituitary 2020 May 21. Epub 2020 May 21.

Department of Endocrinology, Diabetes and Nutritional Medicine, Campus Charité Mitte, Charité Universitaetsmedizin, Charitéplatz 1, 10117, Berlin, Germany.

Introduction: While reasons for non-adherence in children requiring growth hormone (GH) replacement (GH-Rx) are well researched, few studies have investigated adherence in adult GH deficient patients. Against the background of the adverse medical sequelae of untreated severe GH deficiency (GHD) in adults, we explored adherence to GH-Rx and associated factors in this patient group.

Method: Cross-sectional analysis including 107 adult patients with severe GHD on GH-Rx, 15 untreated GDH patients and 19 who had discontinued therapy. Read More

J Pediatr Endocrinol Metab 2020 May 21;33(6):735-742. Epub 2020 May 21.

Gazi Yasargil Training and Research Hospital Clinics of Paediatric Endocrinology, Diyarbakır, Turkey.

Backgrounds Limitations in the evaluation of the pituitary size and changes according to pubertal status make its validity questionable. Recently, in a small-scale study, pons ratio (PR) has been suggested as a more sensitive tool for diagnosis and etiological evaluation of growth hormone deficiency (GHD). The aim of the study is to evaluate the diagnostic value of PR in the diagnosis of GHD. Read More

Patient Prefer Adherence 2020 30;14:781-793. Epub 2020 Apr 30.

Pfizer Ltd., Tadworth, UK.

Introduction: The daily injection burden of recombinant human growth hormone (r-hGH) replacement therapy to treat growth hormone deficiency (GHD) may reduce compliance and limit treatment benefit. Research is needed to evaluate patient preferences for GHD injection regimen and device features.

Objective: Quantitatively evaluate factors driving preferences for r-hGH injection regimen and device features among pediatric (3-17 years, and caregivers) and adult (≥25 years) patients with GHD using a discrete choice experiment (DCE) approach. Read More

Joint Bone Spine 2020 May 16. Epub 2020 May 16.

Department of Rheumatology, CHU de Nantes, Nantes, France.

Objectives: Patients with acromegaly appear to be at increased risk of vertebral fractures despite normal bone mineral density. We investigated the prevalence of vertebral fractures in a cohort of acromegalic patients under 80 years of age.

Methods: Monocentric cross-sectional study performed at Nantes University Hospital from 1988 to 2018. Read More

PLoS Genet 2020 May 19;16(5):e1008796. Epub 2020 May 19.

Department of Biology and Bioinformatics Program, Boston University, Boston, Massachusetts, United States of America.

Sex differences in the incidence and progression of many liver diseases, including liver fibrosis and hepatocellular carcinoma, are associated with sex-biased hepatic expression of hundreds of genes. This sexual dimorphism is largely determined by the sex-specific pattern of pituitary growth hormone secretion, which controls a transcriptional regulatory network operative in the context of sex-biased and growth hormone-regulated chromatin states. Histone H3K27-trimethylation yields a major sex-biased repressive chromatin mark deposited at many strongly female-biased genes in male mouse liver, but not at male-biased genes in female liver, and is catalyzed by polycomb repressive complex-2 through its homologous catalytic subunits, Ezh1 and Ezh2. Read More

Aging (Albany NY) 2020 May 18;12(10):9761-9780. Epub 2020 May 18.

Department of Biology, University of Alabama at Birmingham, Birmingham, AL 35233, USA.

Our previous study demonstrated that the loss of growth hormone releasing hormone (GHRH) results in increased lifespan and improved metabolic homeostasis in the mouse model generated by classical embryonic stem cell-based gene-targeting method. In this study, we targeted the GHRH gene using the CRISPR/Cas9 technology to avoid passenger alleles/mutations and performed in-depth physiological and metabolic characterization. In agreement with our previous observations, male and female GHRH mice have significantly reduced body weight and enhanced insulin sensitivity when compared to wild type littermates. Read More

J Korean Med Sci 2020 May 18;35(19):e151. Epub 2020 May 18.

Department of Pediatrics, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Background: The first-year growth in response to growth hormone (GH) treatment seems to be the most important factor in determining the overall success of GH treatment.

Methods: Data from children (n = 345) who were in the LG Growth Study Database were used to develop a model. All subjects had been diagnosed with idiopathic growth hormone deficiency (GHD) and presented in a prepubertal state during the first year of GH treatment. Read More

Pituitary 2020 Aug;23(4):409-416

SEMPR (Endocrine Division), Department of Internal Medicine, Federal University of Parana, Curitiba, Brazil.

Purpose: To evaluate the prevalence of metabolic syndrome (MetS) and its components in adult hypopituitary patients.

Patients And Methods: Retrospective, cross-sectional analysis of a cohort of hypopituitary adult patients followed in a single reference center for pituitary diseases. MetS was defined by the National Cholesterol Education Program Adult Treatment Panel III (NCEP-ATP III) criteria. Read More