Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome.
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.
Department of Human Genetics, Virginia Commonwealth University, Medical College of Virginia, Richmond, Virginia, USA.
Usha T
UT
Sundaram
Donna M
DM
McDonald-McGinn
Dale
D
Huff
Beverly S
BS
Emanuel
Elaine H
EH
Zackai
Deborah A
DA
Driscoll
Joann
J
Bodurtha
D000293:Adolescent; D000328:Adult; D000568:Amenorrhea / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D014599:Uterus / Q000002:abnormalities*