Journal article
Familial disorder of sex determination in seven individuals from three related sibships
European journal of pediatrics, Vol.159(12), pp.912-918
11/2000
DOI: 10.1007/PL00008369
PMID: 11131351
Abstract
In humans, the sex of an individual is determined by the Y-chromosome-related SRY gene, which causes the differentiation of the undifferentiated gonads into testicular tissue. True hermaphrodites without a Y chromosome and XX males represent a sex determination error in which testicular tissue develops despite the absence of the SRY gene. Familial forms of XX true hermaphrodites and XX males exist in the literature, which also contains the two forms co-existing in the same family. In this report, we present a large family with seven affected individuals with phenotypes ranging from XX male to XX true hermaphrodite with predominance of female characteristics. We suggest that XX maleness and XX true hermaphroditism represent a continuum of the same disorder. We speculate on the mode of inheritance of this disorder in this particular family.
Details
- Title: Subtitle
- Familial disorder of sex determination in seven individuals from three related sibships
- Creators
- Nadim Jarrah - National Centre for Diabetes, Endocrinology and Genetics, Amman, Jordan JOHatem El-Shanti - National Centre for Diabetes, Endocrinology and Genetics, PO Box 13165, Amman 11942, Jordan e-mail: hatem@just.edu.jo Fax: +962-6-5353376 JOAhmad Khier - Al-Bashir Hospital, Ministry of Health, Amman, Jordan JOFatima Nouri Obeidat - Department of Pathology, Jordan University Hospital, Amman, Jordan JOAzmi Haddidi - Department of Radiology, Jordan University Hospital, Amman, Jordan JOKamel Ajlouni - National Centre for Diabetes, Endocrinology and Genetics, Amman, Jordan JO
- Resource Type
- Journal article
- Publication Details
- European journal of pediatrics, Vol.159(12), pp.912-918
- Publisher
- Springer-Verlag
- DOI
- 10.1007/PL00008369
- PMID
- 11131351
- ISSN
- 0340-6199
- eISSN
- 1432-1076
- Language
- English
- Date published
- 11/2000
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984093477902771
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