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Frontiers in Medical Science Research, 2019, 1(4); doi: 10.25236/FMSR.2019.010408.

A case report of male pseudohermaphroditism caused by 17 α-hydroxyenzyme deficiency


Yanyan zhu1, Wei tian2, Guanqi gao3, Wenhua du 3*

Corresponding Author:
Wenhua du

1 Department of Graduate Office,Shandong First Medical University & Shandong Academy of Medical Sciences, China
2 Emergency Department of Linyi people's Hospital, China
3 Department of Endocrinology, Linyi people's Hospital, China
*Corresponding Author


Bckground. 17α-hydroxylase deficiency is a very rare congenital adrenal hyperplasia, which is caused by the mutation of CYP17A1 gene encoding 17α-hydroxylase. The main clinical features include hypertension and hypokalemia, and false hermaphroditism can also be found in men. Case. A 37-year-old phenotypic female with 17 α-hydroxyenzyme deficiency showed hypertension and hypokalemia. Laboratory tests showed that high levels of progesterone, follicular stimulating hormone, luteinizing hormone, karyotype: 46,XY,CYP17A1 gene exons 8 Asp487-Ser488-Phe489 deletion homozygous mutation, and finally diagnosed as 17 α-hydroxyenzyme deficiency. Conclusion. 17 OHD is a rare disease, which is easy to be missed or misdiagnosed, karyotype analysis and gene sequence analysis are helpful to differential diagnosis and diagnosis.


17α-hydroxyenzyme deficiency; Congenital adrenal cortical hyperplasia; Male pseudohermaphroditism

Cite This Paper

Yanyan zhu, Wei tian, Guanqi gao, Wenhua du. A case report of male pseudohermaphroditism caused by 17 α-hydroxyenzyme deficiency. Frontiers in Medical Science Research (2019) Vol. 1 Issue 4: 48-51. https://doi.org/10.25236/FMSR.2019.010408.


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