Literature DB >> 564968

Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome.

F T Weber, J L Frias, R L Julius, A H Felman.   

Abstract

A 28-year-old man with mental retardation and multiple congenital malformations was found to have the classical features of Borjeson-Forssman-Lehmann syndrome. Endocrine evaluations showed primary hypogonadism as the underlying endocrine abnormality rather than hypopituitarism as suggested in earlier reports.

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Year:  1978        PMID： 564968      PMCID： PMC1012825          DOI： 10.1136/jmg.15.1.63

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  5 in total

1.  THE BOERJESON-FORSSMAN-LEHMANN SYNDROME.

Authors:  H S BAAR; J GALINDO
Journal:  J Ment Defic Res       Date:  1965-06

2.  An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder.

Authors:  M BORJESON; H FORSSMAN; O LEHMANN
Journal:  Acta Med Scand       Date:  1962-01

3.  Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.

Authors:  A K Poznanski; S M Garn; J M Nagy; J C Gall
Journal:  Radiology       Date:  1972-07       Impact factor: 11.105

4.  An inherited syndrome with mental deficiency and endocrine disorder. A patho-anatomical study.

Authors:  A Brun; M Börjeson; H Forssman
Journal:  J Ment Defic Res       Date:  1974-12

5.  The response of pituitary gonadotropes to a constant infusion of luteinizing hormone-releasing hormone (LHRH) in normal prepubertal and pubertal children and in children with abnormalities of sexual development.

Authors:  E O Reiter; A W Root; G E Duckett
Journal:  J Clin Endocrinol Metab       Date:  1976-08       Impact factor: 5.958
  5 in total
  2 in total

1.  A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.

Authors:  V Shashi; M N Berry; S Shoaf; J J Sciote; D Goldstein; T C Hart
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

2.  A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome

Authors:  Xia Zhang; Yanjie Fan; Xiaomin Liu; Ming-Ang Zhu; Yu Sun; Hui Yan; Yunjuan He; Xiantao Ye; Xuefan Gu; Yongguo Yu
Journal:  J Clin Res Pediatr Endocrinol       Date:  2019-01-11
  2 in total

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