ESPE Abstracts

Objective: We report a case of a 5y3m patient who complained of breast development with "45, X Turner syndrome (TS) and HCG-secreting gonadoblastoma (Gb)" with Y chromosome mosaicism. Aim to understand the diagnosis of TS and improve the diagnosis and treatment of HCG-secreting tumors.Methods: The data of clinical diagnosis and treatment of this patient were summarized, and the literatures were reviewed.<p ...

Introduction: Pathogenetic mutations in the HSD17B3, located on chromosome 9q22, lead to 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) isoenzyme deficiency, etiopathogenetic for a disorder of sex development (DSD) with 46 XY karyotype and female phenotype at birth. 17β-HSD3 isoenzyme, expressed at testicular tissue, catalyzes the synthesis of testosterone from Δ4-androstenedione, allowing the correct development of male external genit...

Background: The genetic etiology of Type 1 Diabetes (T1D) is well recognized, with over 60 loci being identified to date, mainly through genome-wide association studies (GWAS). Most of these genetic associations involve common variants, while a sizable portion of the missing heritability of T1D could be attributed to unidentified rare single nucleotide polymorphisms (SNPs) (minor allele frequency (MAF) < 5%). The recent availability of large human whole genome sequencing d...

Objectives: Monogenic diabetes and congenital hyperinsulinism (CHI) and are common disorders of glucose-regulated insulin secretion in childhood, with 13 causative genes known for MODY and 10 causative genes identified for CHI. Genetic testing for monogenic diabetes and CHI is important for patient care. We aimed to delineate genetic and clinical manifestations of monogenic diabetes and CHI diagnosed by targeted-exome sequencing (TES).Methods: Nine proba...

Background: Very preterm neonates are at risk for metabolic syndrome later in life. Our objective was to compare anthropometric measures and insulin resistance variables between children who were born very preterm (VPT, <32 gestational weeks) and term (T, >37 gestational weeks), and adequate for gestational age (AGA).Methods: In this cross-sectional cohort study we recruited 113 children 5.0 to 8.5 years old from the preterm clinic of our institu...

Objectives: To investigate the effect of Letrozole on the reproductive function and linear growth in adolescent boys.Methods: 43 early and middle pubertal boy with seriously damaged predicted adult height(PAH), treated with letrozole 1.5mg/m2/d Po(&ngt;2.5mg/d) with a duration of 3-18 months were enrolled as Short-, medium- and long- treatment group with letrozole of 3-6, 6-12, 12-18 months, respectively. 48 healthy pubertal boys were enrolled as control...

Background: Androgens are steroid hormones necessary for human sex development. Testosterone (T) and the more potent dihydrotestosterone (DHT) are maybe the best known androgens, which exert their effect by binding and activating the androgen receptor. Steroid reductases 5α (SRD5As) catalyse the conversion of T to DHT in the classic androgen production pathway, or from 17-hydroxyprogesterone to 17OH-dihydroprogesterone, and androstenedione to androstanedione in alternate ...

Background: RARβ cooperates with Nur77 to in-vitro regulate HSD3B2 transcription. NUR77 expression parallels HSD3B2 expression with a much lower level in androgen-producing adrenocortical tissues (childhood virilizing adrenocortical tumours (VAT), fetal zone (FeZ) and zona reticularis, ZR). RARβ is down-regulated in starved, hyperandrogenic H295R cells. However, the mechanisms regulating this expression pattern and the relevance of RARβ to huma...

Background: Recently kisspeptins are considered as a key gatekeepers of the regulation of the gonadotropic axis.Objective and hypotheses: To investigate the impact of experimentally induced hypogonadism on kisspeptins signaling in androgen-dependent tissues and blood.Method: Wistar male rats (29 in total) were used. Rats were divided into four groups. Group 1 (control, prepubertal rats aged 2 months, n=7). Group 2 (control...

Background: Single nucleotide polymorphisms (SNPs) related to genes encoding the FSHβ subunit and FSH receptor (FSHB/FSHR) affect FSH production (FSHB c.-211G>T) and receptor sensitivity/expression in vitro (FSHR c.2039A>G & FSHR c.-29G>A). FSHR c.2039A>G, but not FSHR c.-29G>A, is associated with increased FSH levels in adult women, while there are conflicting results on F...