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Symptoms and Signs – Differential Diagnosis of Pseudohermaphrodite Female
Excess androgens:
Increase Exposure during the embryonic period: androgen from adrenal/ovarian tumour or luteoma of pregnancy, congenital adrenal hyperplasia (CAH), intake of androgens or androgenic progestogens taken by the mother
Increase Synthesis in the adrenals: CAH
Male
Leydig cell hypoplasia
Luteinizing hormone (LH) or LH-receptor mutation (autosomal recessive) Testosterone synthesis defects (autosomal recessive)
5-alpha reductase deficiency (autosomal recessive)
Androgen insensitivity: spectrum varies from partial (Reifenstein's syndrome) -,
complete (testicular feminization syndrome)
Excess androgens:
Increase Exposure during the embryonic period: androgen from adrenal/ovarian tumour or luteoma of pregnancy, congenital adrenal hyperplasia (CAH), intake of androgens or androgenic progestogens taken by the mother
Increase Synthesis in the adrenals: CAH
Male
Leydig cell hypoplasia
Luteinizing hormone (LH) or LH-receptor mutation (autosomal recessive) Testosterone synthesis defects (autosomal recessive)
5-alpha reductase deficiency (autosomal recessive)
Androgen insensitivity: spectrum varies from partial (Reifenstein's syndrome) -,
complete (testicular feminization syndrome)
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