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      Mode of Inheritance in Familial Cases of Primary Gonadotropic Deficiency

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          Abstract

          The mode of inheritance of primary gonadotropic deficiency was studied in 38 children and adolescents. 92% of this population was male with high frequencies of undescended testes (80%) and micropenis (31 %). Anosmia was present in 61 % of the patients aged more than 5 years and was a frequent genetic marker in the families. Inheritance was matrilineal in 18, X-linked dominant or autosomal dominant in 6. In 13 cases, the transmission was patrilineal and evoked autosomal dominant inheritance. An autosomal recessive transmission was likely in 7 patients. The data agree with the suggestion of multiple modes of inheritance of congenital gonadotropic deficiency, and clearly show the wide range of expressivity of the disorder.

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          Author and article information

          Journal
          HRE
          Horm Res Paediatr
          10.1159/issn.1663-2818
          Hormone Research in Paediatrics
          S. Karger AG
          1663-2818
          1663-2826
          1988
          1988
          28 November 2008
          : 29
          : 5-6
          : 202-206
          Affiliations
          Hôpital Saint-Vincent-de-Paul, Paris, France
          Article
          181003 Horm Res 1988;29:202–206
          10.1159/000181003
          3146543
          © 1988 S. Karger AG, Basel

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          Page count
          Pages: 5
          Categories
          Original Paper

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