title: [Association of mixed gonadal dysgenesis and non-classic 21-hydroxylase deficiency].
abstract: BACKGROUND
  The rare association of mixed gonadal dysgenesis and non classical congenital hyperplasia by 21-hydroxylase deficiency poses the problem of their respective responsibility in the development of sexual ambiguity.
  
  
  METHODS
  In a newborn with ambiguous genitalia, blood 17-OH progesterone was moderately elevated (3.9 to 14.1 ng/mL) leading to the diagnosis of non-classical 21 hydroxylase deficiency, Molecular studies later confirmed this diagnosis. However, the presence of a palpable gonad and the karyotype (45 X/46 XY mosaicism) indicated a mixed gonadal dysgenesis as the cause of sexual ambiguity. Histological examination revealed the presence of a testis and a streak gonad.
  
  
  CONCLUSIONS
  This observation emphasizes the need for a complete clinical and biological analysis in all newborns with sexual ambiguity.
authors.affiliation: Service d'endocrinologie pédiatrique, hôpital Saint-Vincent-de-Paul, Paris, France.
authors.forename: O
authors.initials: O
authors.lastname: Del Pino
authors.forename: J C
authors.initials: JC
authors.lastname: Carel
authors.forename: J P
authors.initials: JP
authors.lastname: Barbet
authors.forename: Y
authors.initials: Y
authors.lastname: Morel
authors.forename: J L
authors.initials: JL
authors.lastname: Chaussain
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000312:Adrenal Hyperplasia, Congenital; D005260:Female; D006060:Gonadal Dysgenesis, Mixed / Q000097:blood / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn
chemical_list: D019326:17-alpha-Hydroxyprogesterone