Growth and ovarian function in girls with 48,XXXX karyotype--patient report and review of the literature

• Published in: Journal of pediatric endocrinology & metabolism : JPEM Vol. 15; no. 7; p. 1051
• Main Authors: Rooman, Raoul P A, Van Driessche, Karen, Du Caju, Marc V L
• Format: Journal Article
• Language: English
• Published: Germany 01-07-2002
• Subjects: Adult; Body Height - genetics; Chromosomes, Human, X; Dehydroepiandrosterone Sulfate - blood; Female; Humans; Karyotyping; Metabolism, Inborn Errors - genetics; Primary Ovarian Insufficiency - blood; Primary Ovarian Insufficiency - genetics; Sex Chromosome Aberrations
• ISSN: 0334-018X
• DOI: 10.1515/JPEM.2002.15.7.1051

The loss of an X chromosome results in short stature and often in primary ovarian failure, but the effect of extra X chromosomes is less clear, especially in 48,XXXX women. We report a girl with a 48,XXXX karyotype with tall stature (181.8 cm), primary ovarian failure and low DHEAS levels. A review of the literature shows that, apart from an intellectual deficit, the phenotype is very heterogeneous. The few data that are available in the literature indicate that tall stature and primary ovarian failure are not essential characteristics of the 48,XXXX phenotype.