Endocrine Abstracts

Genetic defects causing primary, central secondary or tertiary adrenal insufficiency (AI) belong to the group of rare diseases that involve multiple candidate genes. In primary AI adrenal defects lead to hormonal deficiencies. Underlying genetic mutations may be found either in genes involved in the development of the adrenal gland (e.g. DAX1/NR0B1) or in genes that are essential for the signaling, regulation (e.g. MC2R, MRAP) or the biosynthesis of steroid hormones (e.g. StAR...

Steroidogenic factor 1 (SF-1/NR5A1) is a regulator of steroid hormone biosynthesis and sex development. It was first identified in a 46,XY newborn with complete sex reversal and primary adrenal insufficiency. Most 46,XY patients carrying heterozygote NR5A1 mutations manifest with a disorder of sexual development (DSD) phenotype, although an adrenal only phenotype has also been described in one 46,XX patient. Mutations in NR5A1 may be found in up to 9% of 46,XY subjects with mi...

Genetic variants causing adrenal insufficiency (AI) are either disrupting corticosteroid production exclusively leading to isolated AI or they are causing additional organ malfunctions as part of a syndromic form of AI. In isolated AI, genetic disorders may affect structure and function of the adrenal cortex or adrenal steroidogenesis specifically, but often also lead to overall disturbances of steroidogenesis affecting other steroid organs (mainly the gonads ...

Background: GH deficiency due to iron overload is well known in thalassaemic children, yet this association has not been described in children with haemochromatosis.Case report and methods: We report on a girl who was first seen at the age of 9.6 years (height 117.5 cm, −3.3 SDS, weight 21 kg, −2.5 SDS). She had a normal physical examination and was prepubertal. Target height-SDS was −0.9. Her bone age was delayed by 10 months. IGF1 was...

The defective conversion of testosterone to dihydrotestosterone due to a steroid 5-alpha-reductase 2 deficiency results in a unique form of 46, XY disorder of sexual development (DSD). Dihydrotestosterone is essential for the embryonic differentiation of the external male genitalia and the prostate. Steroid 5-alpha-reductase 2 deficiency is an autosomal recessive disorder in which genetic males have a predominantly female phenotype with female external genitalia but male inter...

The human adrenal cortex consists of three layers in which specific steroid hormones are produced. Human adrenal NCI-H295A (A) and NCI-H295R (R) cells, originate from the same adrenocortical tumor and express all genes essential for steroidogenesis. Therefore they often serve as a suitable model to study human steroidogenesis. No data are available comparing steroidogenesis of A vs. R cells. Assuming no difference, research data from these two cell lines are directly compared....

Context: Congenital hypogonadotropic hypogonadism (CHH) and CHARGE syndrome are clinically and genetically overlapping syndromes, with mutations in the CHD7 gene presenting in both disorders. However systematic evaluation of CHARGE features in CHD7-positive CHH patients is seldom performed.Objective: This study aims to systematically evaluate CHARGE features in CHD7-positive patients and explore the phenotype-genotype correlation.<p...

Aims: We studied the association of newborn screening (NBS) on early infancy outcomes in 21-hydroxylase deficiency (21OHD) congenital adrenal hyperplasia (CAH), using I-CAH registry data.Methods: From 2018-2023, data was available for 121 infants with 21OHD CAH (52 male) during the first 90 days of life from 26 centres in 15 countries. NBS was performed in 15 centres from 9 countries.Result...