Keyword
Kallmann syndrome
| Definition | Protein which, if defective, causes Kallmann syndrome, a disorder characterized by the association of hypogonadotropic hypogonadism with anosmia or hyposmia. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). In some patients other developmental anomalies can be present such as renal agenesis, cleft lip/palate, selective tooth agenesis and bimanual synkinesis. |
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| Synonyms |
Dysplasia olfactogenitalis of De Morsier
Hypogonadotropic hypogonadism and anosmia
HHA
Kallmann's syndrome
Kallmann de Morsier syndrome
KMS
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| Category |
› Disease
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