A5003114313- Growth Hormone and Insulin-like Growth Factors
- Sexual Differentiation and Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Metabolism and Genetic Disorders
- Childhood Cancer Survivors' Quality of Life
- Birth, Development, and Health
- Pituitary Gland Disorders and Treatments
- Genetic Syndromes and Imprinting
- Prenatal Screening and Diagnostics
- Hormonal and reproductive studies
- Neonatal Health and Biochemistry
- Neonatal Respiratory Health Research
- Organ Transplantation Techniques and Outcomes
- Adrenal Hormones and Disorders
- Diabetes and associated disorders
- Genetics and Neurodevelopmental Disorders
- Pancreatic function and diabetes
- Hypothalamic control of reproductive hormones
- Thyroid Disorders and Treatments
- Gestational Diabetes Research and Management
- Gender Studies in Language
- Obesity, Physical Activity, Diet
- Diet and metabolism studies
- Diabetes Management and Research
- Folate and B Vitamins Research
National Center For Child Health and Development
2016-2025
University of Virginia
2025
Juntendo University
2023
Assistance Publique – Hôpitaux de Paris
2022
University Hospitals Birmingham NHS Foundation Trust
2022
Sapienza University of Rome
2022
Aarhus University Hospital
2022
Inserm
2022
Université Paris-Saclay
2022
Ohio University
2022
The objectives of this study were to determine which factors in early pubertal girls might be predictive later, severe facial acne.The was a 5-year longitudinal cohort study, with yearly visits from 1987 through 1991, volunteer sample 439 black and 432 white fourth- fifth-grade consent their legal guardians. subjects recruited public parochial schools Cincinnati, Ohio. degree acne classified annually as mild, moderate, or severe. Blood samples obtained at the first, third, fifth years study....
This paper represents an international collaboration of paediatric endocrine and other societies (listed in the Appendix) under International Consortium Paediatric Endocrinology (ICPE) aiming to improve worldwide care adolescent girls with polycystic ovary syndrome (PCOS)1. The manuscript examines pathophysiology guidelines for diagnosis management PCOS during adolescence. complex involves interaction genetic epigenetic changes, primary ovarian abnormalities, neuroendocrine alterations,...
This International Consensus Guideline was developed by experts in the field of small for gestational age (SGA) 10 pediatric endocrine societies worldwide. A consensus meeting held and 1300 articles formed basis discussions. All voted about strengths recommendations. The guideline gives new clinically relevant insights into etiology short stature after SGA birth, including novel knowledge (epi)genetic causes. Further, it presents long-term consequences birth also reviews treatment options,...
We report on the clinical and molecular findings in 25 males three females with Kallmann syndrome (KS) aged 10–53 yr. Ten were from five families, remaining 15 apparently sporadic cases. Molecular studies performed for 1 (KAL1) fibroblast growth factor receptor (FGFR1, also known as KAL2) by sequence analysis all coding exons, PCR-based deletion analysis, fluorescence situ hybridization (FISH) showing six novel two recurrent intragenic KAL1 mutations seven familial four male cases FGFR1 In...
Measurements of insulin-like growth factor-I (IGF-I) are useful not only for diagnosis and management patients with hormone (GH)-related disorders but also assessing nutritional status. We reported population-based references serum IGF-I in 1996. However, they did properly reflect data the transition period from puberty to maturity. The aim present study was re-establish a set normative Japanese population. included 1,685 healthy subjects (845 males, 840 females) 0 83 years old. Subjects...
The Growth Hormone (GH) Research Society (GRS) convened a workshop to address important issues regarding trial design, efficacy, and safety of long-acting growth hormone preparations (LAGH).A closed meeting 55 international scientists with expertise in GH, including pediatric adult endocrinologists, basic scientists, regulatory participants from the pharmaceutical industry.Current literature was reviewed for gaps knowledge. Expert opinion used suggest studies required potential efficacy...
PurposeTemple syndrome (TS14) is a rare imprinting disorder caused by aberrations at the 14q32.2 imprinted region. Here, we report comprehensive molecular and clinical findings in 32 Japanese patients with TS14.MethodsWe performed studies for TS14 356 variable phenotypes, all patients, including 13 previously reported.ResultsWe identified 19 new TS14, total of was made up 23 maternal uniparental disomy (UPD(14)mat), six epimutations, three microdeletions. Clinical revealed both Prader-Willi...
The Kabi/Pfizer International Growth Database (KIGS) is a large, international database (1987-2012) of children treated with recombinant human growth hormone (rhGH) in real-world settings.This work aimed to evaluate the safety and efficacy rhGH from full KIGS cohort.Data were collected by investigators disorders (Genotropin [somatropin]; Pfizer). Safety was evaluated all patients, those for 1 year or more. A subgroup included patients 5 years more (≥ 2 prepubertal) who had reached near-adult...
Abstract Context Somapacitan, a once-weekly reversible albumin-binding GH derivative, is evaluated in children with deficiency (GHD). Objective To demonstrate efficacy and safety of somapacitan vs daily GH. Methods REAL4 randomised, multinational, open-labeled, active-controlled parallel group phase 3 trial, comprising 52-week main trial 3-year extension (NCT03811535). Setting Eighty-six sites across 20 countries. Patients 200 treatment-naïve patients were randomized exposed. Interventions...
Abstract: Growth hormone (GH) replacement therapy for growth deficiency (GHD) in children and adults has over 25 years, until recently, been administered as daily injections. This treatment regimen often incurs a burden to patients caregivers, leading high rates of non-adherence and, consequently, decreased efficacy outcomes. To address this shortcoming, long-acting hormones (LAGHs) have developed with the aim reducing injections, thereby potentially improving adherence Somapacitan (Sogroya...
Abstract Organized sports are governed by specific rules which aim to create or preserve fair play. An unfair advantage can be obtained the use of substances methods, also referred as doping. The World Anti-Doping Agency (WADA) leads international doping-free sport movement and annually publishes List Prohibited Substances Methods (List), that is used most federations organizations around world. However, some athletes have legitimate medical conditions require treatments included on List....
Although the "backdoor" pathway to dihydrotestosterone has been postulated in fetal-to-early-infantile period of patients with cytochrome P450 oxidoreductase deficiency (PORD), clinical data support this remain limited.The objective study was obtain evidence for presence backdoor PORD.This a collaboration between laboratories and hospitals.Twenty-two Japanese molecularly confirmed PORD 1763 control subjects participated study.Urine steroid profile analysis performed by gas...
Abstract We report on molecular and clinical findings in 10 Japanese patients (four males six females) from eight families (two pairs of siblings isolated cases) with Antley-Bixler syndrome accompanied by abnormal genitalia and/or impaired steroidogenesis. Direct sequencing was performed for all the 15 exons cytochrome P450 oxidoreductase gene (POR), showing two missense mutations (R457H Y578C), a 24-bp deletion mutation resulting loss nine amino acids creation one acid (L612_W620delinsR),...
Context: Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder characterized by skeletal dysplasia, adrenal dysfunction, disorders of sex development (DSD), and maternal virilization during pregnancy. Although multiple studies have been performed for this condition, several matters remain to be clarified, including the presence manifesting heterozygosity underlying factors clinical variability.
ABSTRACT Kenny–Caffey syndrome (KCS) is a rare dysmorphologic characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure anterior fontanelle, eye abnormalities, hypoparathyroidism. The autosomal dominant form KCS (KCS type 2 [KCS2]) distinguished from the recessive 1 [KCS1]), which caused mutations tubulin-folding cofactor E (TBCE) gene, absence mental retardation. In this study, we recruited four unrelated Japanese patients...
Congenital hyperinsulinism is a rare condition, and following recent advances in diagnosis treatment, it was considered necessary to formulate evidence-based clinical practice guidelines reflecting the most progress, guide of neonatologists, pediatric endocrinologists, general pediatricians, surgeons. These cover range aspects, including features congenital hyperinsulinism, diagnostic criteria tools for diagnosis, first- second-line medical details surgical future perspectives. were...
Abstract Context Growth hormone deficiency (GHD) in children is currently treated with daily injections of GH, which can be burdensome for patients and their parents/guardians. Somapacitan a GH derivative development once-weekly treatment GHD. Objective This work aimed to assess the efficacy safety somapacitan, associated disease/treatment burden, after 4 years 1 year switching somapacitan from GH. Methods long-term extension multicenter, controlled phase 2 trial (NCT02616562) took place at...
Abstract We report on PTPN11 (protein-tyrosine phosphatase, nonreceptor type 11) mutation analysis and clinical assessment in 45 patients with Noonan syndrome. Sequence was performed for all of the coding exons 1–15 PTPN11, revealing a novel 3-bp deletion 10 recurrent missense mutations 18 patients. Clinical showed that 1) growth pattern similar mutation-positive mutation-negative patients, no significant difference birth length [−0.6 ± 2.2 sd (n = 10) vs. −0.6 1.4 21); P 0.95], childhood...
abstract Context: Short stature (SS) is a multifactorial developmental condition with significant genetic component. Recent studies have revealed that rare deleterious mutations in the GH-secretagogue receptor type 1A (GHSR1A) gene could be cause of familial SS or GH deficiency. Objective: The aim this study was to evaluate contribution GHSR1A molecular mechanism underlying Japanese subjects. Methods: We performed mutational screening 127 unrelated patients diagnosed either isolated...
Recent studies have revealed relative frequency and characteristic phenotype of two major causative factors for Silver-Russell syndrome (SRS), i.e. epimutation the H19-differentially methylated region (DMR) uniparental maternal disomy 7 (upd(7)mat), as well multilocus methylation abnormalities positive correlation between index body placental sizes in H19-DMR epimutation. Furthermore, rare genomic alterations been found a few patients with idiopathic SRS. Here, we performed molecular...