ESPE Abstracts

Background: The molecular diagnosis of McCune Albright syndrome (MAS) is difficult because the detection of somatic GNAS1 mutations is usually performed in blood, in which the fraction of mutated allele could be barely detectable. To improve the usual techniques (selective enrichment, either with nested PCR and enzymatic digestion or with use of peptide nucleic acid probes), and to avoid technical problems like contamination, a new approach using next generation seque...

Background: StAR deficiency is a rare cause of primary adrenal insufficiency (PAI), with fewer than 100 cases reported worldwide. The first patients to be described suffered from severe forms of lipoid adrenal hyperplasia leading to severe undervirilization in 46,XY foetuses. More recently, however, less severe forms, known as "non-classical" or "atypical lipoid adrenal hyperplasia", presenting with PAI with salt wasting (SW) syndrome and norma...

Background: X-linked Congenital Adrenal Hypoplasia (AHC) is a rare cause of primary adrenal insufficiency due to mutations in NR0B1 gene, causing a loss of function of the nuclear receptor protein DAX-1. Adrenal insufficiency usually presents in the first two months of life, but sometimes can appear later in childhood. Hypogonadotropic Hypogonadism is often associated later in life and all patients develop azoospermia. We describe an unusual onset of AHC started with ...

Background: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by specific failure of adrenocortical glucocorticoid production in response to adrenocorticotropic hormone (ACTH). Mutations of the nicotinamide nucleotide transhydrogenase (NNT) gene have recently been implicated in FGD.Objective and hypotheses: To describe a new case of FGD with combined mineralocorticoid insufficiency and extra adrenal manifestations....

Background: Congenital primary adrenal insufficiency (PAI) can occur as three types: isolated glucocorticoid or mineralocorticoid deficiency, or global adrenal insufficiency, with combined mineralo and glucocorticoid deficiency. Once the most frequent genes (CYP21A2, ABCD1…) have been discarded by biological tests, many other genes may be involved in each type, and one gene may be responsible of different types. Consequently, there is no real decision tree in th...

Background: Steroid 11-β hydroxylase deficiency is the second most frequent cause of adrenal hyperplasia (CAH) with autosomal recessive inheritance. Girls have importantly virilized external genitalia at birth, and boys display precocious pseudopuberty. Unlike others enzymatic deficiency involved in CAH, there is no salt wasting during infancy but patients develop hypertension. Because of more than 90% of homologous sequence between CYP11B1 gene ...

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...