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Sex Chromosome Anomalies
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
L. Hamerton John, A. Evans Jane
De la Chapelle (27) suggested that 1 in 25,000 newborn males has a 46,XX karyotype and that, in series of patients with Klinefelter syndrome, the incidence is 1 in 25. The clinical phenotype is similar to that of Klinefelter syndrome, except that XX males are shorter than XXY males and perhaps less prone to mental impairment (Fig. 6). Otherwise, the features are similar, with normal external genitalia and small testes with the same histological changes. Secondary sexual characteristics, hormonal status, and rates of gynecomastia and sterility are similar to 47,XXY subjects. Some 46,XX individuals are true hermaphrodites with both infertile testes and ovaries or ovotestis. In some males, there may be some ambiguity in the external genitalia.
Miscellaneous
Published in Giuseppe Micali, Pompeo Donofrio, Maria Rita Nasca, Stefano Veraldi, Vulval Dermatologic Diagnosis, 2015
Maria Rita Nasca, Giuseppe Micali
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.
The external genitalia
Published in Kevin G Burnand, John Black, Steven A Corbett, William EG Thomas, Norman L Browse, Browse’s Introduction to the Symptoms & Signs of Surgical Disease, 2014
Kevin G Burnand, John Black, Steven A Corbett, William EG Thomas, Norman L Browse
Intersex is divided into: Female (46XX) with inappropriate virilization (female pseudohermaphrodite). The most common example is congenital adrenal hyperplasia, which accounts for 85 per cent of all ambiguous genitalia.Incomplete virilization of a male (46XY) – a male pseudohermaphrodite.Gonadal dysgenesis with abnormal sex chromosomes, e.g. Turner’s syndrome (45X0) and Klinefelter’ssyndrome (47XXY).True hermaphrodites, where both ovarian and testicular tissue coexist. This is very rare.
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