Tire stone syndrome E34.5

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Definition
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Male pseudohermaphroditism with partial androgen resistance and infertility.

Etiopathogenesis
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X-linked recessive inheritance.

Clinical features
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Phenotype and external genitals are male. There is also gynecomastia, slightly eunuchoid features, hypospadias.

Laboratory
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Azoospermia in hyalinized tubules seminiferi.

Differential diagnosis
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Defect of 17β-hydroxy oxidoreductase; Klinefelter syndrome.

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020