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[Gonadal dysgenesis in own material].

I Gasińska-Drozdowska, Marian Goluda, M Hirowska-Tracz, A Roszyk-Rybińska

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Abstract

Eleven patients with Turner syndrome and 6 with pure gonadal dysgenesis were examined. Diagnosis was made on the base of clinical and cytogenetic examination. All patients had primary amenorrhea and underdevelopment of primary, secondary and tertiary sexual features. Hormonal estimations revealed elevated FSH serum concentration in women with Turner syndrome and with pure gonadal dysgenesis (46, XY) vs. to patients with 46, XX. Estradiol and Progesterone levels were low in all cases. All women were treated with estrogens and progestational agents in sequential manner with good results. We did not observe significant phenotypic differences between patients with monosomie X and patients with structural abnormalities within chromosome X and mosaicism.

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What this paper is about

Eleven patients with Turner syndrome and 6 with pure gonadal dysgenesis were examined. Diagnosis was made on the base of clinical and cytogenetic examination. All patients had primary amenorrhea and underdevelopment of primary, secondary and tertiary sexual features. Hormonal estimations revealed elevated FSH serum concentration in women with Turner syndrome and with pure gonadal dysgenesis (46, XY) vs. to patients with 46, XX. Estradiol and Progesterone levels were low in all cases. All women were treated with estrogens and progestational agents in sequential manner with good results. We did not observe significant phenotypic differences between patients with monosomie X and patients with structural abnormalities within chromosome X and mosaicism.

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Available abstract

Eleven patients with Turner syndrome and 6 with pure gonadal dysgenesis were examined. Diagnosis was made on the base of clinical and cytogenetic examination. All patients had primary amenorrhea and underdevelopment of primary, secondary and tertiary sexual features. Hormonal estimations revealed elevated FSH serum concentration in women with Turner syndrome and with pure gonadal dysgenesis (46, XY) vs. to patients with 46, XX. Estradiol and Progesterone levels were low in all cases. All women were treated with estrogens and progestational agents in sequential manner with good results. We did not observe significant phenotypic differences between patients with monosomie X and patients with structural abnormalities within chromosome X and mosaicism.

Key concepts: Primary amenorrhea, Gonadal dysgenesis, Medicine, Turner syndrome, Secondary sex characteristic, Amenorrhea, Dysgenesis, Karyotype

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