Literature DB >> 881190

Pure gonadal dysgenesis (type XX). Report on a family with four affected sibs.

H R Nazareth, L M Farah, A J Cunha, F J Vieira.   

Abstract

A family with four 46,XX siblings affected by the pure gonadal dysgenesis syndrome is described. Inheritance is by an autosomal recessive gene limited to the female sex.

Entities:  

Mesh：

Year:  1977        PMID： 881190     DOI： 10.1007/bf00293782

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  2 in total

1.  Male pseudohermaphroditism: a hitherto undescribed form.

Authors:  G I SWYER
Journal:  Br Med J       Date:  1955-09-17

2.  Gonadal dysgenesis in individuals with apparently normal chromosomal complements: tabulation of cases and compilation of genetic data.

Authors:  J L Simpson; A C Christakos; M Horwith; F S Silverman
Journal:  Birth Defects Orig Artic Ser       Date:  1971-05
  2 in total
  4 in total

Review 1.  A synopsis of the human Y chromosome.

Authors:  E M Bühler
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

2.  Comparison of adult height between patients with XX and XY gonadal dysgenesis: support for a Y specific growth gene(s).

Authors:  T Ogata; N Matsuo
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

3.  Further evidence for differential regulation of follicle-stimulating hormone (FSH) and luteinizing hormone (LH): increased FSH and decreased LH levels in a patient with familial pure gonadal dysgenesis.

Authors:  V Popovic; D Micic; S Damjanovic; L Calovic; Z Rolovic; A Mijovic; M Petakov; D Manojlovic; J Micic
Journal:  Postgrad Med J       Date:  1992-11       Impact factor: 2.401

4.  Pure gonadal dysgenesis (46 XX type) with a familial pattern.

Authors:  Shahin Kohmanaee; Setila Dalili; Afagh Hassanzadeh Rad
Journal:  Adv Biomed Res       Date:  2015-08-10
  4 in total

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