Editorial: X-chromosome-linked Kallmann's syndrome: Pathology at the molecular level

Journal Article · Thu Apr 01 04:00:00 EST 1993 · Journal of Clinical Endocrinology and Metabolism; (United States)

DOI:https://doi.org/10.1210/jcem.76.4.8473390· OSTI ID:6288116

Prager, D; Braunstein, G D ^[1]

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1. 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), Journal Name: Journal of Clinical Endocrinology and Metabolism; (United States) Vol. 76:4; ISSN JCEMAZ; ISSN 0021-972X
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CHROMOSOMES
CONGENITAL MALFORMATIONS
GENETIC MAPPING
GONADOTROPINS
GONADS
HETEROCHROMOSOMES
HORMONES
HUMAN CHROMOSOMES
HUMAN X CHROMOSOME
MALFORMATIONS
MAPPING
MENTAL DISORDERS
ORGANIC COMPOUNDS
PATHOLOGICAL CHANGES
PEPTIDE HORMONES
PITUITARY HORMONES
PROTEINS
SECRETION
X CHROMOSOME