The Japanese Journal of Human Genetics, volume 34, issue 3, pages 231-234

Congenital adrenal hyperplasia in monozygotic twins with variable clinical manifestations

Debasis Kanjilal 1
Ram S. Verma 2
Leonard Glass 1
Árvind Babu 3
Fatih Ramazanoglu 1
Serpouhi Popescu 3
1
 
Department of Pediatrics, Suny Health Science Center, Brooklyn, USA
2
 
Division of Genetics, Long Island College Hospital, SUNY Health Science Center, Brooklyn, USA
3
 
Division of Medical Genetics, Beth Israel Medical Center, Mt. Sinai School of Medicine, New York, USA
Publication typeJournal Article
Publication date1989-09-01
SJR
CiteScore
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ISSN00215074, 09168478
PubMed ID:  2634136
Genetics (clinical)
Abstract
The first cases of congenital adrenal hyperplasia III with variable clinical manifestations in female monozygotic twins are presented. Twin “A” revealed severe hypertrophy of the clitoris, labial fusion and a visible introitus. However, twin “B” manifested moderate clitoral hypertrophy, a visible introitus and no labial fusion. Neither infant had palpable gonads.
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