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Pubertal abnormalitiesPrecocious and delayed
Published in Joseph S. Sanfilippo, Eduardo Lara-Torre, Veronica Gomez-Lobo, Sanfilippo's Textbook of Pediatric and Adolescent GynecologySecond Edition, 2019
Girls who do not have Turner syndrome but have deletions in a portion of the Xq region only may also have premature ovarian insufficiency.18 Girls with XY gonadal dysgenesis (previously called Swyer syndrome) or mixed gonadal dysgenesis (45X/46XY) will present with ovarian insufficiency but also have risk for dysgerminoma or gonadoblastoma (see Chapter 7). Another group of girls with ovarian insufficiency can be 16% of those with fragile X heterozygote permutation carrier status, particularly if the affected X was of paternal origin. Galactosemia may lead to ovarian failure in 70%–80% of affected girls. Other rare forms of hypergonadotropic hypogonadism, including mutations in the FSH-β subunit or FSH receptor, or type 1 blepharophimosis-ptosis-epicanthus inversus syndrome due to an autosomal mutation in chromosome 3, can also occur.
Disorders of sexual development
Published in Prem Puri, Newborn Surgery, 2017
Presence of incomplete differentiated gonads or coexisting ovarian and testicular tissue with ambiguous or female external genitalia. This is a heterogeneous group with one common factor, which is a structural defect in gonadal differentiation with or without a chromosome alteration. Patients with mixed gonadal dysgenesis (MGD), testicular dysgenesis, and true hermaphroditism (TH, now called ovotesticular disorder of sexual development) are included in this group.
Hormonal control of the menstrual cycle and hormonal disorders
Published in Helen Bickerstaff, Louise C Kenny, Gynaecology, 2017
Mixed gonadal dysgenesis is a more complex condition. The karyotype may be 46XX, but XX/XY mosaicism is present in up to 20%. In this situation, both functioning ovarian and testicular tissue can be present and if so, this condition is known as ovotesticular DSD. The anatomical findings vary depending on the function of the gonads. For example, if the testis is functional, then the baby will virilize and have ambiguous or normal male genitalia. The Müllerian structures are usually absent on the side of the functioning testis, but a unicornuate uterus may be present if there is an ovary or streak gonad.
Contemporary genetics-based diagnostics of male infertility
Published in Expert Review of Molecular Diagnostics, 2019
Alberto Ferlin, Savina Dipresa, Andrea Delbarba, Filippo Maffezzoni, Teresa Porcelli, Carlo Cappelli, Carlo Foresta
Men with 45,X/46,XY Mixed gonadal dysgenesis may present at birth with ambiguous genitalia or as adults with infertility, gonadal failure and/or short stature [34]. Phenotype is variable and gonads may develop into testicles or undifferentiated streaks, and may be located in the scrotum, intra-abdominally, or along the path of descent in the inguinal canal. Individuals with bilateral scrotal testicles typically present as a male with short stature and gonadal failure, quite invariably azoospermia and very rare chance of sperm retrieval by TESE [35]. About half of them have primary hypogonadism with need for testosterone replacement [36]. This syndrome might present also cardiac and renal malformations, gonadoblastoma, and germ cell tumors.
Mixed gonadal dysgenesis with an ovotestis on imaging mimicking ovotesticular disorder of sexual differentiation
Published in Baylor University Medical Center Proceedings, 2021
Samantha Fine, Kenneth Ford, Bradley Trotter, Hoang-Kim Le, Matthew Crisp, Jose Santiago, Krista Birkemeier
The clinical presentation of mixed gonadal dysgenesis (MGD) varies widely and may be phenotypic female, male, or ambiguous. Most individuals with MGD have a unilateral descended gonad and a contralateral streak gonad or no gonad. MGD is associated with infertility, insufficient puberty, and stunted growth in adolescence. There is about a 33% risk of developing malignancy in the dysgenetic gonad in the first two decades if XY chromosomes are present.1