Endocrine Abstracts (2009) 20 P322

Triple X syndrome (47, XXX) with infertility and obesity

Mustafa Kocak1, Cihangir Erem1, Irfan Nuhoglu1, Figen Celep2, Ozge Ucuncu1, Mustafa Karagulle1 & H Onder Ersoz1

1Endocrinology and Metabolism Department, Medical Faculty, Karadeniz Technical University, Trabzon, Turkey; 2Medical Biology and Genetics Department, Medical Faculty, Karadeniz Technical University, Trabzon, Turkey.

Background: Triple-X (Trisomy X) is found in approximately 1 per 1000 females. Mental retardation is the most common feature in triple-X females. Women with Triple X usually are fertile, but they sometimes get the menopause earlier than other women. They are not generally phenotypically abnormal. Although reproductive organs, pubertal development, and fertility are normal in most cases. Some are first identified in infertility clinics, others in institutions for the mentally retarded, but probably many of them remain undiagnosed.

Case: A 31-year-old woman was referred to the endocrinology clinic of our hospital due to amenorrhea for 1 years. She had been married for four years and with no children. She first menstruated at the age of seventeen and then menstruated at 2–3 months intervals (oligomenorrhea). She is 155 cm in height and 80 kg in weight and BMI: 33 kg/m2. She had no eunuchoid body habitus. System and genital examination were phenotypically normal. However vulva and vagen atrophic, labium minuses were hypoplasic. She has average intelligence. Laboratory findings were shown hypergonadotropic hypoganadism: concordant with (FSH 32.05 mIU/ml, LH 13.58 mIU/ml, Estradiol 24.35 pg/ml) other anterior pituitary hormones were normal. Uterus size was found normal in pelvic ultrasonography. She had streaked gonads on both sides. In the analysis of chromosomes, 47, XXX formation (Triple-X syndrome) was detected.

Conclusion: While Triple-X females are usually fertile and thin, this syndrome should be taken into consideration in the cases of fertility and obesity.

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