Dominant transmission of imperforate hymen.
OBJECTIVE
Imperforate hymen is an uncommon anomaly of the reproductive tract, occurring in approximately 0.1% of newborn females. The familial occurrence of imperforate hymen in a child, her mother, and her mother's monozygotic twin is reported.


METHODS
Case report.


METHODS
Academic medical center.


METHODS
Three affected family members.


METHODS
Karyotype and pedigree analysis.


RESULTS
The proband, presenting with peritonitis, was evaluated at age 12 for imperforate hymen because this condition was diagnosed in her mother at age 14. At age 14, the mother's monozygotic twin was asymptomatic except for primary amenorrhea and was also demonstrated to have imperforate hymen. No other reproductive system abnormalities were known to be present in the remaining family members. Chromosomal structural analysis confirmed that the mother of the proband had no chromosomal abnormalities.


CONCLUSIONS
The occurrence of imperforate hymen in two consecutive generations of a family is consistent with a dominant mode of transmission, either sex-linked or autosomal. Previously reported examples of siblings with imperforate hymen suggested a recessive mode of inheritance. Taken together, these cases suggest that imperforate hymen can be caused by mutations in several genes. This case highlights the importance of evaluating all family members of affected patients. Familial examples of other developmental anomalies of the female reproductive tract also suggest a multifactorial genetic etiology.
Stelling
J R
JR
Department of Obstetrics, Gynecology, and Reproductive Biology, Beth Israel Deaconess Medical Center, Harvard Medical School, Massachusetts, Boston, USA. jstelling@pol.net
Gray
M R
MR
Davis
A J
AJ
Cowan
J M
JM
Reindollar
R H
RH
D000328:Adult; D004200:Diseases in Twins; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D006924:Hymen / Q000002:abnormalities*; D007621:Karyotyping; D008875:Middle Aged; D010375:Pedigree; D014430:Twins, Monozygotic / Q000235:genetics; D014623:Vaginal Diseases / Q000235:genetics*