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46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review

1
Urology Unit, Department of Woman Child and of General and Specialist Surgery, University of Campania “Luigi Vanvitelli”, 80131 Naples, Italy
2
Division of Endocrinology and Metabolic Diseases, Department of Advanced Medical and Surgical Sciences, University of Campania “Luigi Vanvitelli”, 80131 Naples, Italy
*
Author to whom correspondence should be addressed.
Medicina 2019, 55(7), 371; https://doi.org/10.3390/medicina55070371
Received: 15 May 2019 / Revised: 28 June 2019 / Accepted: 8 July 2019 / Published: 12 July 2019
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Abstract

Background and objectives: XX male syndrome is part of the disorders of sex development (DSD). The patients generally have normal external genitalia and discover their pathology in adulthood because of infertility. There are no guidelines regarding XX male syndrome, so the aim of our study was to evaluate the literature evidence in order to guide the physicians in the management of these type of patients. Materials and Methods: We performed a systematic review of the available literature in September 2018, using MEDLINE, Web of Science, Embase and Google Scholar database to search for all published studies regarding XX male syndrome according to PRISMA guidelines. The following search terms were used: “46 XX male”, “DSD”, “infertility”, “hypogonadism”. Results: After appropriate screening we selected 37 papers. Mean (SD) age was 33.14 (11.4) years. Hair distribution was normal in 29/39 patients (74.3%), gynecomastia was absent in 22/39 cases (56.4%), normal testes volume was reported in 0/14, penis size was normal in 26/32 cases (81.2%), pubic hair had a normal development in 6/7 patients (85.7%), normal erectile function was present in 27/30 cases (90%) and libido was preserved in 20/20 patients (100%). The data revealed the common presence of hypergonadotropic hypogonadism. All patients had a 46,XX karyotype. The sex-determining region Y (SRY) gene was detected in 51/57 cases. The position of the SRY was on the Xp in the 97% of the cases. Conclusions: An appropriate physical examination should include the evaluation of genitalia to detect cryptorchidism, hypospadias, penis size, and gynecomastia; it is important to use a validated questionnaire to evaluate erectile dysfunction, such as the International Index of Erectile Function (IIEF). Semen analysis is mandatory and so is the karyotype test. Abdominal ultrasound is useful in order to exclude residual Müllerian structures. Genetic and endocrine consultations are necessary to assess a possible hypergonadotropic hypogonadism. Testicular sperm extraction is not recommended, and adoption or in vitro fertilization with a sperm donor are fertility options. View Full-Text
Keywords: 46,XX; XX male syndrome; disorders of sex development; De la Chapelle; infertility; hypogonadism 46,XX; XX male syndrome; disorders of sex development; De la Chapelle; infertility; hypogonadism
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Terribile, M.; Stizzo, M.; Manfredi, C.; Quattrone, C.; Bottone, F.; Giordano, D.R.; Bellastella, G.; Arcaniolo, D.; De Sio, M. 46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review. Medicina 2019, 55, 371.

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