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June 1968

Familial Hypogonadotropic Hypogonadism With Anosmia

Author Affiliations

Los Angeles; Seattle

From the Division of Medical Genetics, Department of Medicine, University of California School of Medicine, Los Angeles (Dr. Sparkes); the Medical and Dental Building Hospital, Seattle (Dr. Simpson); and the Division of Endocrinology, Department of Medicine, University of Washington, Seattle (Dr. Paulsen).

Arch Intern Med. 1968;121(6):534-538. doi:10.1001/archinte.1968.03640060048009

Hypogonadotropic hypogonadism with anosmia has been found in two brothers and a half sister, who are related through the same mother. Although the mother does not have the full syndrome, her history suggests she may have minor symptoms of the syndrome. X-linked inheritance seems most compatible with the familial distributions. Differences of this syndrome from other inherited hypogonadal conditions are discussed. The genetic defect is thought to directly or indirectly affect the hypothalamus which has associations with both olfaction and pituitary function. The importance of testing for anosmia in patients with abnormality in sexual development is noted.