Associated Papers
Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype.
Bouça B et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2023
Mutations in NR5A1 associated with ovarian insufficiency.
Lourenço D et al.
The New England Journal of Medicine, 2009
Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency.
Costa-Santos M et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
[Two cases of karyotype 46 XY "female" 17-alpha-hydroxylase deficiency].
Liu LS et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 1985
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