ESPE Abstracts

Background: X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency (PAI) and hypogonadotropic hypogonadism (HH), with limited clinical and genetic characterization.Methods: The clinical, biochemical, genetic, therapeutic, and follow-up data of 42 patients diagnosed with X-linked AHC were retrospectively analysed.Results: Hyperp...

Objective: Clinical Observation of fifty-two patients with 5-alpha-reductase deficiency (5 - alpha-reductasedeficiency, 5α-RD) with oral testosterone undecanoate. To evaluate the efficacy and drug safety, find the optimum age of medication.Methods: Prospective self-controlled comparison methods were used to analyze the clinical data and follow-up results in sixty-nine patients who are diagnosed with 5-alpha-reductas...

Context: We investigate the efficacy and safetyof non-inferiority clinical trial for human chorionic gonadotropin/ human menopaousal gonadotropin (HCG/HMG) versus pulsatile gonadotropin-releasing hormone (GnRH) which have not been evaluated in puberty boys with CHH.Objective: To compare the efficacy and security of two different treatments in male adolescent patient with congenital hypogonadotropic hypogonadism (CHH).Methods: For t...

Background: Fulminant type 1 diabetes (FT1D) is presented as a severe diabetes subtype among adults, however, we have no idea whether it’s worth being taken seriously among children and adolescents.Objective and hypotheses: We aim to clarify the clinical significance of the subtype. It’s supposed that we may needn’t pay special attention to the subtype.Method: Case–control study design. Data from hospitalized al...

Objective: Studies on 5α-reductase type 2 deficiency (5α-RD) are limited and the genotype-phenotype correlation has not been elucidated. The aim of the study was to analyze clinical and molecular characteristics, genotype-phenotype correlation in a large Chinese 5α-RD cohort.Design: Database registration study.Method: We analyzed clinical and genetic data of gene con...

Background: Thiamine-responsive megaloblastic anemia syndrome(TRMA) is a rare disease characterized by diabetes mellitus, megaloblastic anemia and sensorineural hearing loss. The disease can be accompanied by attack of stroke, which are rarely reported. To analyze the clinical characteristics of a case of thiamine-responsive megaloblastic anemia with attack of stroke in our hospital and review the related literature of this syndrome in order to improve the dia...

Background: Silver Russell syndrome (SRS) is an imprinting defect disease.Objective: To study clinical characteristics and imprinting defects in Chinese children with SRS.Methods: Forty-nine SRS cases were studied retrospectively. Out of these 49 cases, 36 were available to be detected chromosome 11p15 imprinting defects and 21 cases were detected uniparental disomy of maternal chromosome 7 (UPD(7) mat).Resul...

Background: Hypoglycemia triggers the secretion of counter-regulatory hormones such as cortisol, GH, and glucagon, all of which are protective mechanisms to restore euglycemia. It has been suggested that CHI patients have abnormal glucagon secretion during hypoglycemia, but the data is limited.Objective and hypotheses: To investigate the secretion of counter-regulatory hormones including glucagon during hypoglycemia. It’s supposed that these hormone...

Background: Micropenis are the most common signs of incomplete masculinisation, but do not receive enough attention. The etiology is very complex, including endocrine factors, genetic factors and environmental endocrine disruptors.Objective and hypotheses: To explore 45 cases of micropenis children steroidogenesis factor 1 genetic abnormalities and to research the influence of the mutation on sex gland function.Method: 45 micropeni...

Background: Vitamin D dependent rickets type 1A (VDDR1A) is a rare disease caused by CYP27B1 mutations which encodes vitamin D 1α-hydoxylase.Objective and hypotheses: Vitamin D dependent rickets type 1A features of three Chinese cases with CYP27B1 mutations and report the experience of medication for severe hypocalcaemia.Method: Summarise their clinical features analyse the CYP27B1 and vitamin D receptor (VDDR) mutations.<...