[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.

CASE REPORT:

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.

CONCLUSION:

This observation emphasizes the need for a complete clinical and biological analysis in all newborns with sexual ambiguity.

• Authors: O Del Pino, J C Carel, J P Barbet, Y Morel, J L Chaussain
• Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie (Arch Pediatr) Vol. 3 Issue 12 Pg. 1258-61 (Dec 1996) ISSN: 0929-693X [Print] France
• Vernacular Title: Association d'une dysgénésie gonadique mixte et d'une forme non classique de bloc de la 21-hydroxylase.
• PMID: 9033792 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• 17-alpha-Hydroxyprogesterone

Topics

• 17-alpha-Hydroxyprogesterone (blood)
• Adrenal Hyperplasia, Congenital
• Female
• Gonadal Dysgenesis, Mixed (blood, complications)
• Humans
• Infant, Newborn