L'hyperplasie congénitale des surrénales (HCS) par déficit en 21 hydroxylase à révélation tardive est une maladie à transmission autosomique récessive dont la présentation usuelle est une virilisation tardive para ou post pubertaire. Nous rapportons le cas d'une patiente âgée de 17 ans, ayant consulté pour aménorrhée primaire, chez qui l'examen clinique a trouvé un morphotype masculin, des sign...

A Turkish boy was referred at the age of 3 6/12 years for the evaluation of a premature moustache. No other signs of virilisation were present. The endocrine evaluation led to the diagnosis of nonclassic congenital adrenal hyperplasia. Genetic analysis revealed 2 rare mutations of the CYP21A2 gene, the gene encoding for the 21-hydroxylase enzyme: a recently reported R132C mutation in exon 3 and...

Virilising ovarian tumours are a rare cause of hyperandrogenism in women, accounting for less than 5% of all ovarian neoplasms. It occurs most often in - and postmenopausal women. We report a case of a 64 year-old woman with signs of virilisation that had started 3 years before. Blood hormone analysis revealed increased levels of testosterone, and 17-hydroxyprogesterone. The tetracosactin test ...

Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a well-known disorder of sexual development (previously known as ambiguous genitalia) in genotypic female neonates. We report on a 66-year-old Chinese, brought up as male, with a simple virilising form of congenital adrenal hyperplasia associated with Turner's syndrome (karyotype 45,X/47,XXX/46,XX). His late presentati...

To try and find out if a defect in androgen biosynthesis or action could be responsible for the incomplete virilisation seen in boys with isolated hypospadias and isolated micropenis, androgen receptor binding was studied in genital skin fibroblasts established from 18 boys with isolated micropenis and 19 boys with isolated hypospadias. The production of gonadotrophins and testosterone was also...

A 67 year old woman presented with dry skin, facial hair, hoarse voice, and weight gain. She was hypertensive (168/ 96 mm Hg), her haemoglobin concentration was 19 g/l, and haematocrit was 55.7%. The diagnosis of probable secondary polycythaemia was made. Blood testosterone concentration was 44 nmol/l (normal < 5) and was not suppressed by dexamethasone, suggesting a neoplastic source rather th...

A 67-year-old woman presented with dry skin, facial hair, hoarse voice, and weight gain. She was hypertensive (168/ 96 mm Hg), her haemoglobin concentration was 19 g/l, and haematocrit was 55.7%. The diagnosis of probable secondary polycythaemia was made. Blood testosterone concentration was 44 nmol/l (normal < 5) and was not suppressed by dexamethasone, suggesting a neoplastic source rather th...

Virilisation of the XX foetus is the result of androgen excess, resulting most frequently from congenital adrenal hyperplasia in individuals with typical ovarian differentiation. In rare cases, 46,XX gonads may differentiate into testes, a condition known as 46,XX testicular disorders of sex development (DSD), or give rise to the coexistence of ovarian and testicular tissue, a condition known a...