Article
The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.
The Journal of clinical endocrinology and metabolism - 1 Apr 2001
Oliveira L M, Seminara S B, Beranova M, Hayes F J, Valkenburgh S B, Schipani E, Costa E M, Latronico A C, Crowley W F, Vallejo M
Abstract excerpt
Kallmann syndrome (KS) consists of congenital, isolated, idiopathic hypogonadotropic hypogonadism (IHH) and anosmia. The gene responsible for the X-linked form of KS, KAL, encodes a protein, anosmin, that plays a key role in the migration of GnRH neurons and olfactory nerves to the hypothalamus. In addition to X-linked pedigrees, autosomal dominant and recessive kindreds with KS have been reported. The relative...
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