[HTML][HTML] 46, XX testicular disorder of sex development (DSD): a case report and systematic review

M Terribile, M Stizzo, C Manfredi, C Quattrone… - Medicina, 2019 - mdpi.com
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 …

[HTML][HTML] 46 XX karyotype during male fertility evaluation; case series and literature review

A Majzoub, M Arafa, C Starks, H Elbardisi… - Asian journal of …, 2017 - journals.lww.com
Forty-six XX disorder of sex development is an uncommon medical condition observed at
times during the evaluation of a man's fertility. The following is a case series and literature …

Expect the unexpected: screening for secondary findings in clinical genomics research

MP Mackley, B Capps - British Medical Bulletin, 2017 - academic.oup.com
Background Due to decreasing cost, and increasing speed and precision, genomic
sequencing in research is resulting in the generation of vast amounts of genetic data. The …

[HTML][HTML] A 46, XX karyotype in men with infertility: Two new cases and review of the literature

E Kouvidi, H Tsimela, L Lazaros… - Journal of Human …, 2022 - journals.lww.com
Abstract 46, XX male sex reversal syndrome is a rare genetic cause of male infertility. We
report on two new cases of this syndrome in men presenting with hypogonadism and …

[HTML][HTML] A rare case of male sex reversal syndrome (46, XX) with negative SRY gene: a disorder of sexual differentiation (DSD)

MA Abd El Salam, NH Ibrahim, NN Eskarous - African Journal of Urology, 2021 - Springer
Background Male sex reversal syndrome is a rare genetic cause of male infertility with an
overall incidence of 1/20,000–1/100,000 males. There is mismatching between the genetic …

46, XX Erkek Sendromu.

B Uçan, M Özbek, O Topaloğlu… - Turkish Journal of …, 2013 - search.ebscohost.com
Özet 46, XX erkek sendromu-testiküler yetmezlik ile birlikte seksüel farklılaşma bozukluğu,
normalden-belirsize kadar değişen erkek dış genital yapısı ile karakterize nadir görülen bir …

Three cases of rare SRY-negative 46, XX testicular disorder of sexual development with complete masculinization and a review of the literature

BY Lee, SY Lee, YW Lee, SY Kim, JW Kim… - Journal of genetic …, 2016 - koreascience.kr
Purpose: To identify the clinical characteristics of SRY-negative male patients and genes
related to male sex reversal, we performed a retrospective study using cases of 46, XX …

[PDF][PDF] 46, XX male syndrome

B Uçan, M Özbek, O Topaloğlu… - Turk. J. Endocrinol …, 2013 - endocrinolrespract.org
Abs tract 46, XX male syndrome–testicular disorder of sexual differentiation (DSD) is a rare
condition characterized by a spectrum of clinical presentations, ranging from ambiguous to …

[PDF][PDF] Sekonder Hipogonadizmi Olan Erkek Olguda İnfertilitenin Beklenmeyen Nedeni

F Muayane, E YUNUSOV, MM YALÇIN - ENDOKRİN VAKALAR-4 - file.temd.org.tr
OLGU SUNUMU-11 basıncı: 125/80 mmHg, solunum: 16/dk, boy: 161 cm, kilo: 71 kg, BMI:
27, 4 kg/m2, kulaç uzunluğu: 162 cm, üst/alt vücut oranı 0.85, önikoid vücut yapısı yok …

[PDF][PDF] Late Presentation of a Disorder of Sexual Development Due to Rare 46XX/47XX SRY-Positive 46XX/47XX Karyotype

EIE Abdelgadir, AMK Bashier, F Alawadi… - J Clin Case …, 2015 - researchgate.net
Genital tract differentiation and development is a complex process beginning early in
embryonic life. Mutation or translocation of the sex-determining region of the Y chromosome …