Miscellaneous
Giuseppe Micali, Pompeo Donofrio, Maria Rita Nasca, Stefano Veraldi in Vulval Dermatologic Diagnosis, 2015
Etiology: Female pseudohermaphroditism is usually caused by a recessive congenital enzymatic defect of adrenal steroid biosynthesis. These patients present a 46 XX genotype with normal ovaries. The most common enzymatic defect is that of the 21-hydroxylase, which causes an overproduction of androgens and an underproduction of cortisol with consequent virilization. Male pseudohermaphroditism may be the result of a lack of gonadotropin, an enzyme defect in testosterone biosynthesis or a defect in androgen-dependent target tissue responses. Disorders of gonadal differentiation may be related to a different number or structure of X and Y chromosomes or to a male-specific transplant antigen (H-Y antigen) that interacts with the Y chromosome to induce testicular differentiation. They can occur in several chromosomal abnormalities, with one of the most common being Turner’s syndrome (45X) or Turner’s mosaicism (45X/46XX). True hermaphroditism is also possible, with external and internal genital development.
Embryology
Anthony R. Mundy, John M. Fitzpatrick, David E. Neal, Nicholas J. R. George in The Scientific Basis of Urology, 2010
Nondisjunction and translocation anomalies are not confined to gametogenesis, but can also occur during the early mitotic cell divisions in the process of cleavage. In the resulting state, termed mosaicism, the embryonic tissues contain a varying ratio of cell lines with differing karyotypes depending on the phase of cleavage at which nondisjunction occurred, such as two-cell, four-cell, and eight-cell embryo. Abnormalities of the sex chromosomes are often found in mosaic form. Ovotesticular disorders of sex development (previously termed true hermaphroditism) (2) can be explained on this basis. Affected individuals possess both ovarian (XX) and testicular (XY) tissues that coexist in streak-like gonads termed ovotestes. Gonadal mesenchyme carrying a Y chromosome differentiates as testicular tissue, whereas tissue derived from the original population of non–Y embryonic cells differentiates passively down the female (ovarian) pathway. Karyotypes show a varied pattern, including 45 X/46 XY and 46 XX/47 XXY. Turner’s syndrome and Klinefelter’s syndrome are often associated with mosaic karyotypes.
Hernia and hydrocele
Brice Antao, S Irish Michael, Anthony Lander, S Rothenberg MD Steven in Succeeding in Paediatric Surgery Examinations, 2017
The male-to-female ratio of inguinal hernia is between 3 : 1 and 10 : 1. Sliding hernias are more common in girls, where a fallopian tube or mesosalpinx is frequently found in the wall of the hernia sac in girls and is at risk of injury. The finding of a testis during repair of a female hernia should raise the suspicion of congenital androgen insensitivity syndrome (CAIS) or true hermaphroditism. The reported incidence of CAIS in female infants with inguinal hernias is 1.6%, while as many as 75% of CAIS patients present with a hernia. Bilateral hernias in girls are not associated with a higher risk of CAIS than is a unilateral hernia. If a testis is discovered at operation, most surgeons advocate repairing the hernia and leaving the gonad for the time being. Karyotyping and pelvic ultrasonography is then performed. The gonads would eventually need to be removed, although the timing is controversial.
Persistent Labial Minora Fusion in Reproductive Age Women: A Retrospective Case Series of Nine Patients and Review of Literature
Published in Organogenesis, 2021
Ze Liang, Juan Chen, Xin Yu, Lan Zhu
To differentiate the persistent labial minora fusion in women from labial adhesion, the following criteria were proposed: Inclusion of labial minora fusion patients discovered either in infant or pubertal age and persisted into the reproductive age or at reproductive age with a history of menstruation and normal sex hormone.Exclusion of congenital adrenal cortical hyperplasia, false hermaphroditism, true hermaphroditism and other acquired conditions.16