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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.
Definitions
Published in Mari Robbins, Janet Wetherfield, Anthony Yates, Terminology for Medical Administrators, 2017
Mari Robbins, Janet Wetherfield, Anthony Yates
hermaphrodite rare abnormality in which the external sex organs are of one gender and hormones are produced that belong to the other (transexuals, who ‘feel’ like members of the other sex, are pseudo-hermaphrodites)
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.
Molecular study and genotype–phenotype in Chinese female patients with 46, XY disorders of sex development
Published in Gynecological Endocrinology, 2021
Junke Xia, Jing Wu, Chen Chen, Zhenhua Zhao, Yanchuan Xie, Zhouxian Bai, Xiangdong Kong
The LHCGR gene (OMIM #152790) encodes a shared receptor for human chorionic gonadotropin (CG) and luteinizing hormone (LH), which plays a critical role in sexual differentiation [28]. During early embryogenesis, placental CG stimulates the production of testosterone and maturation of fetal Leydig cells via binding to LHCGR [29]. Loss-of-function mutations of LHCGR could result in Leydig cell hypoplasia (LCH) and hypergonadotropic hypogonadism [30]. LCH is a rare autosomal recessive disorder, characterized by varying degrees of pseudo-hermaphroditism [9]. LHCGR protein comprises extracellular, trans-membrane, and intracellular domains [31]. Here, two novel heterozygous variants (Ile89Leu/Val141Ala) were identified in a patient with male pseudo-hermaphroditism. The 3D protein model of the extracellular domain showed that the two variants may be located in the β-folding domain and affect ligand recognition and binding affinity (Figure 4). Further studies are required to determine the clear molecular mechanism. Additionally, DNA sequencing showed that the two variants of the proband were inherited from the mother and father. Based on Mendel's law of inheritance, there was a possibility of 25% that the family would have a child with LCH at next pregnancy. An effective way to prevent the birth of a child with LCH is prenatal diagnosis by chorion villus sampling during early pregnancy or amniocentesis after the second trimester. Prenatal diagnosis was successfully performed, and the proband’ mother gave birth to a healthy child.
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