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A rare form of gynecomastia with hypogonadism. Similar to the Reifenstein syndrome but without hypospadias.

Familial Gynecomastia.

First described by S. Rosewater in 1965.

X-linked or autosomal dominant.

Unclear; resistance to androgen action suggested. Masculinization by monthly administration of testosterone has been demonstrated.

Clinical features (gynecomastia with hypogonadism); biochemical (increased levels of testosterone and estrogen, but with low levels of luteinizing hormones); histology (decreased Leydig cells on testicular biopsy).

Gynecomastia, hypogonadism, sterility.

Endocrine dysfunction appears to be limited to the reproductive system. Psychological attention must be given to patients affected with this conditions because of the embarrassment caused by the gynecomastia.

Reifenstein Syndrome: Characterized by male pseudohermaphroditism, which means that the individual has testes but presents clinically with the secondary sexual characters both male and female. The severity of androgen insensitivity determines the clinical presentation.

Rosewater S, Gwinup G, Hamwi SJ: Familial gynaecomastia. Ann Intern Med 63:377, 1965.  [PubMed: 14327504]

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