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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#