ESPE Abstracts

Background: Although growth hormone (GH) and the GH releasing hormone receptor (GHRHR) are known as etiologic factors in non-syndromic isolated growth hormone deficiency (IGHD), very few mutations have been identified in this rare condition (accounting for only 6–12.5% and 0–6.7% of IGHD cases depending on studies). The functional consequences of the identified variants have rarely been assessed.Objective and hypotheses: To assess the contribut...

Background: The side chain cleavage enzyme (CYP11A1) catalyzes the conversion of cholesterol to pregnenolone, the first rate-limiting step of steroidogenesis. CYP11A1 mutations are associate with primary adrenal insufficiency (PAI) and, in 46,XY patients, Disorders of Sex Development (DSD). A total of 35 patients (27 families) are reported including 15 intermediate forms with delayed onset of PAI, variable degrees of DSD or normal male phenotype.<p class="abstext"...

Background and Aims: Central Precocious Puberty (CPP) caused by the early activation of the hypothalamic-pituitary-gonadal axis is a rare affection that occurs in 0.2% in girls. Clinical signs are suggestive and LHRH-test could be sometimes difficult to use and not always contributive. Gonadotropin assay in twenty-four hours-urinary collection could be an interesting option. The present work intended to evaluate the diagnostic interest of 24-hour urinary gonad...

Background: Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1 (gene encoding 11β-hydroxylase), is a rare autosomal recessive disorder due to an impairment of the last steroidogenesis step. Consequences are a decreased cortisol secretion, elevated plasma levels of ACTH, and accumulation of steroid precursors responsible of hyperandrogenism and hypertension. It is the second most frequent cause of CAH after 21-Hydroxylase de...

Background: Steroidogenic Factor 1 (SF-1), encoded by NR5A1 (Nuclear receptor subfamily 5 group A member 1) gene, is a transcriptional factor that is primordial for adrenal and gonadal organogenesis. Pathogenic variants of NR5A1 are responsible for a wide spectrum of phenotypes with autosomal dominant inheritance, from adrenal insufficiency to gonadal dysgenesis and oligospermia-azoospermia in 46,XY patients.Obj...

Background: Mutations in the gene encoding LHX4, a homeodomain-containing factor with two LIM domains, are responsible for dominant hypopituitarisms with incomplete penetrance and variable expressivity. To date, only 14 unambiguous LHX4 mutations have been reported. Among those cases, 12 had an absent or ectopic posterior pituitary (EPP) and/or an abnormal sella turcica.Objective and hypotheses: To i) assess the contribution of LHX4 in combined pituitary...

Context: Alterations in semen characteristics and Sertoli and Leydig cell function have been described in obese male adults. Whether these alterations occur before adulthood has not been fully evaluated.Objective and Design: Cross sectional study from 2010 to 2018 describing gonadic function in overweight-obese (ow/ob) boys through childhood and adolescence.Setting: Monocentric study in the Pediatric Endocrinology ...

Introduction: In obese boys, alteration of Sertoli and Leydig cell functions have been described, but potential reversibility of these alterations after weight loss during childhood has not been fully evaluated.Objective: Evaluate the impact of weight loss on gonadic function in obese boys.Setting: Monocentric study in the Pediatric Endocrinology Unit of Angers University Hospital ant its follow-up...

Purpose: Isolated growth hormone deficiency (IGHD) is a rare condition mainly caused by mutations in GH1. The aim of this study was to assess the contribution of GHRHR mutations to IGHD in a very large cohort of patients.Methods: All GHRHR coding exons and flanking intronic regions were sequenced in 312 unrelated patients with non-syndromic IGHD. Functional consequences of all newly identified missense variants were assessed <e...

Background: GLI2 is a zinc-finger transcription factor of the SHH signaling pathway, expressed during ventral forebrain and pituitary development. GLI2 mutations account for microforms of dominant holoprosencephaly. So far, only 15 unambiguous mutations were found in hypopituitarism –essentially combined pituitary hormone deficiency (CPHD)– frequently associated with holoprosencephaly-like malformations and/or polydactyly.Objective and...