Home > E. Pathology by systems > Reproductive system > 17,20-desmolase deficiency
17,20-desmolase deficiency
Thursday 22 July 2010
Synopsis
ambiguous genitalia
in utero virilization of female fetus
fetal and maternal virilization associated with pregnancy
normal karyotype / normal female genotype
extremely high levels of pregnenolone, pregnenolone sulfate, progesterone d in association with low plasma levels of delta 4-androstenedione, testosterone, dehydroepiandrosterone and its sulfate
cortisol 17OH-progesterone and ACTH levels and plasma renin activity normal.
all the progestagens rise further after ACTH stimulation and were suppressed by dexamethasone.
all androgens faile to rise after ACTH: the responses of cortisol are normal.
References
17,20-desmolase deficiency in a female newborn, paradoxically virilized in utero. de Peretti E, Pradon M, Forest MG. J Steroid Biochem. 1984 Jan;20(1):455-8. PMID: 6323871