A case report of an incidental finding of a 46,XX, SRY-negative male with masculine phenotype during standard fertility workup with review of the literature and proposed immediate and long-term management guidance

Ryan, Neil; Akbar, Shahnaz

doi:10.1016/j.fertnstert.2012.11.040

Cited by 11 publications

(9 citation statements)

References 26 publications

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“… 17 This variability can be explained by the hypogonadism often in existent or may be secondary to a dose-dependent genetic aberration, as has been postulated by some researchers. 18 Up to 40% of cases had some form of reduced virilization.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2017

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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 review of phenotypically normal men diagnosed with this karyotype. Our goal is to comprehend the patients’ clinical presentation as well as their laboratory results aiming to explore options available for their management. A formal literature review through PubMed and MEDLINE databases was performed using “46 XX man” as a word search. A total of 55 patients, including those conveyed in this article were diagnosed with a 46 XX karyotype during their fertility evaluation. The patients’ mean age ± s.d. was 34 ± 10 years and their mean height ± s.d. was 166 ± 6.5 cm. Overall, they presented with hypergonadotropic hypogonadism. Sexual dysfunction, reduced hair distribution, and gynecomastia were reported in 20% (4/20), 25.8% (8/31), and 42% (13/31) of the patients, respectively. The SRY gene was detected in 36 (83.7%) and was absent in the remaining seven (16.3%) patients. We found that a multidisciplinary approach to management is preferred in 46 XX patients. Screening for remnants of the mullerian ducts and for malignant transformation in dysgenetic gonads is imperative. Hypogonadism should be addressed, while fertility options are in vitro fertilization with donor sperm or adoption.

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Section: Discussionmentioning

confidence: 99%

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

et al. 2017

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“…Bu bireylerin yaklaşık % 80'inde, SRY geni pozitif iken, yaklaşık % 20 'sinde negatiftir. SRY pozitif bireyler normal erkek genital yapısına sahip, küçük azospermik testisleri olan bireyler olup tanıları genellikle yetişkinlikte infertilite araştırması sırasında konmaktadır (10,11). SRY pozitif olan 46,XX testiküler bozukluk genel olarak kalıtsal değildir.…”

Section: Discussionunclassified

“…SRY geni başka bir kromozoma transloke olduğunda ise doğurganlık korunmuş olur ve otozomal dominant kalıtım görülür. Sendromik tip 46,XX testiküler bozukluk palmoplantar keratosis ve cildin skuamöz hücreli karsinomuna predispozisyon ile karakterize olup, R-Spondin 1 mutasyonu varlığı ile tanısı konur (9,11). SRY negatif gruptakilerin çoğunda ovotestisküler cinsiyet gelişimi mevcuttur.…”

Section: Discussionunclassified

46,XX Male Syndrome

Uçan¹,

Özbek²,

Topaloğlu³

et al. 2013

Tjem

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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 normal male genitalia. These cases are diagnosed more easily in childhood. In adults, the diagnosis can be difficult due to the current normal gender development. Here, we report hormonal, molecular and cytogenetic results in an adult male patient with primary hypogonadism who was diagnosed with 46, XX male syndrome in our clinic. Turk Jem 2013; 17: 46-

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“…Screening of study titles and abstracts revealed 47 articles potentially eligible for inclusion; a further assessment based on the full-text led to the exclusion of 10 papers (Figure 1). The 37 selected studies described 64 adult patients with XX male syndrome [5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41].…”

Section: Resultsmentioning

confidence: 99%

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

et al. 2019

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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.

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A case report of an incidental finding of a 46,XX, SRY-negative male with masculine phenotype during standard fertility workup with review of the literature and proposed immediate and long-term management guidance

Cited by 11 publications

References 26 publications

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

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

46,XX Male Syndrome

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

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