Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome.

Abstract

The classic clinical features in the 22q11.2 deletion syndrome are congenital heart defects, hypocalcemia, immunodeficiency, learning, speech, and behavioral difficulties. The phenotype is highly variable and continues to expand. We present two cases of absent uterus and unilateral renal agenesis in females with the 22q11.2 deletion. Clinicians caring for these adolescents should be aware of the possibility of renal anomalies and Mullerian agenesis. The diagnosis of 22q11.2 deletion may be considered in a female with Mullerian agenesis, particularly, in association with a history of learning difficulties and speech delay.

• Authors: Usha T Sundaram, Donna M McDonald-McGinn, Dale Huff, Beverly S Emanuel, Elaine H Zackai, Deborah A Driscoll, Joann Bodurtha
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 143A Issue 17 Pg. 2016-8 (Sep 01 2007) ISSN: 1552-4825 [Print] United States
• PMID: 17676598 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2007 Wiley-Liss, Inc.

Topics

• Adolescent
• Adult
• Amenorrhea (complications, diagnosis, genetics)
• Chromosome Deletion
• Chromosomes, Human, Pair 22 (genetics)
• DiGeorge Syndrome (complications, diagnosis, genetics)
• Diagnosis, Differential
• Female
• Humans
• Uterus (abnormalities)