XX male syndrome


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A rare autosomal recessive [MIM 278850] sex chromosome anomaly that clinically mimics Klinefelter syndrome

XX male syndrome

An AR sex chromosome anomaly that clinically mimics Klinefelter syndrome Clinical ♂ psychosexual orientation, masculine appearance, weak 2º sexual characteristics, azoospermia, ↓ androgen levels, small testes
References in periodicals archive ?
In 1964, a rare case of male infertility of 46 XX male syndrome was first reported by de la Chapelle (1).
This case study presents the clinical, hormonal and molecular data of an individual with XX male syndrome. The patient was phenotypically male with no ovaries, uterus, cervix, vagina and other female genitalia.
Earlier it was known as 46 XX male syndrome or 46 XX sex reversal2.
In our June issue we will cover the following topics; Late-Onset Hypogonadism in Male Patients Over 60 Years of Age with Metabolic Syndrome, Depression, Anxiety and Quality of Life Among Adult Turkish Patients with Type 1 Diabetes Mellitus, Polycystic Ovary Syndrome and the Relationship of Cardiovascular Disease Risk, Evaluation of Preventive Studies in Type 1 Diabetes Mellitus, Primary Thyroid Lymphoma Diagnosed During Pregnancy: A Case Report, 46, XX Male Syndrome, Bluish Discoloration with Thyrotoxicosis.
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.