Editorial: X-chromosome-linked Kallmann's syndrome: Pathology at the molecular level
- Cedars-Sinai Medical Center, Los Angeles, CA (United States)
Kallmann's syndrome or olfactogenital dysplasia refers to a disorder characterized by hypogonadotropic hypogonadism and anosmia or hyposmia which can occur sporadically or in a familial setting. Originally described in 1856, the first familial cases were reported by Kallmann et al., in 1944. Based on segregation analysis of multiple families, three modes of transmission have been documented: X-linked, autosomal dominant with variable penetrance, and autosomal recessive. Kallmann's syndrome occurs in less than 1 in 10,000 male births, with a 5-fold excess of affected males to females, suggesting that the X-linked form is the most frequent. By genetic linkage analysis the X-linked form of Kallmann's syndrome was localized to Xp22.3. This was confirmed by the description of patients with contiguous gene syndromes due to deletions of various portions of the distal short arm of the X-chromosome. Such patients present with complex phenotypes characterized by a combination of Kallmann's syndrome with X-linked icthyosis due to steroid sulfatase deficiency, chondrodysplasia punctata, short stature, and mental retardation. DNA analysis has identified and mapped the genes responsible for these disorders. 10 refs., 1 fig., 1 tab.
- OSTI ID:
- 6288116
- Journal Information:
- Journal of Clinical Endocrinology and Metabolism; (United States), Vol. 76:4; ISSN 0021-972X
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
GONADOTROPINS
SECRETION
GONADS
CONGENITAL MALFORMATIONS
HUMAN X CHROMOSOME
GENETIC MAPPING
MENTAL DISORDERS
CHROMOSOMES
HETEROCHROMOSOMES
HORMONES
HUMAN CHROMOSOMES
MALFORMATIONS
MAPPING
ORGANIC COMPOUNDS
PATHOLOGICAL CHANGES
PEPTIDE HORMONES
PITUITARY HORMONES
PROTEINS
X CHROMOSOME
550400* - Genetics