Incomplete Müllerian Fusion
November 8, 2007 on 8:30 pm | In Gynecology | Comments OffJoe Leigh Simpson
Familial aggregates of incomplete müllerian fusion include multiple affected siblings, as well as affected mother and daughter. In some families, affected relatives show different forms of incomplete müllerian fusion.
The only one formal genetic study is that of Elias, who found only one of 37 (2.7%) sisters of probands to have a clinically symptomatic [...]
Müllerian Aplasia
November 8, 2007 on 8:21 am | In Gynecology | Comments OffJoe Leigh Simpson
Aplasia of the müllerian ducts leads to absence of the uterine corpus, uterine cervix, and upper portion of the vagina. The foreshortened 1- to 2-cm vagina presumably is derived exclusively from invagination of the urogenital sinus. Individuals with müllerian aplasia usually consult physicians because of primary amenorrhea. Secondary sexual development is normal, no [...]
Longitudinal Vaginal Septa
November 8, 2007 on 8:20 am | In Gynecology | Comments OffJoe Leigh Simpson
Isolated longitudinal vaginal septa reflects a different etiology than transverse vaginal septa. In the former, heritable tendencies have not been discerned. However, longitudinal septa may be part of several multiple malformation syndromes (Edwards-Gale, Fraser).
Imperforate Hymen
November 7, 2007 on 7:31 pm | In Gynecology | Comments OffJoe Leigh Simpson
Ordinarily the central portion of the hymen is patent (perforate), thereby allowing outflow of mucus and blood. If the hymen is imperforate, mucus and blood accumulate in the vagina or uterus (hydrocolpos or hydrometrocolpos). An imperforate hymen is easily corrected by surgical incisions, preferably cruciform. McIlroy and Ward reported affected siblings. Recently, Stelling [...]
Transverse Vaginal Septa and the McKusick-Kaufman Syndrome
November 7, 2007 on 7:16 pm | In Gynecology | Comments OffJoe Leigh Simpson
Transverse vaginal septa occur at several locations and may be complete or incomplete. These septa usually are about 2 cm thick and located near the junction of the upper third and lower two thirds of the vagina. Septa may be present in the middle or lower third of the vagina. Perforations usually are [...]
Fusion of the Labia Minora
November 7, 2007 on 7:31 am | In Gynecology | Comments OffJoe Leigh Simpson
Fusion of the labia minora is often the sequela of infection or sexual abuse. However, congenital fusion apparently unassociated with these factors has been observed in siblings and in more than one generation.
True Hermaphroditism
November 7, 2007 on 7:28 am | In Gynecology | Comments OffJoe Leigh Simpson
True hermaphrodites have both ovarian and testicular tissue. They may have a separate ovary and a separate testis or, more often, one or more ovotestes. Most true hermaphrodites (60%) have a 46,XX chromosomal complement; however, a minority have 46,XX/46,XY, 46/XY, 46,XX/47,XXY, or other complements. Phenotype probably reflects karyotype, but it is preferable here [...]
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