Tauchmanovà L, Rossi R, Pulcrano M, Tarantino L, Baldi C, Lombardi G
Department of Molecular and Clinical Endocrinology and Oncology, Federico II University, Naples, Italy.
J Endocrinol Invest. 2001 Nov;24(10):811-5. doi: 10.1007/BF03343932.
Mosaicism 45X/47XXX is a sporadic form of ovarian dysgenesis. Many of the cases previously described were characterized by a variable phenotype expression. We here report the case of a 33-yr-old woman with recent secondary amenorrhea, weight loss and breast regression. Her menarche had occurred at the age of 11 yr and 6 months and her menstrual cycles had been regular until the age of 28; then, oligomenorrhea and hypertricosis developed. A pelvic ultrasound showed enlarged polycystic-like ovaries and normal uterus. She was treated with ethynil-estradiol and cyproterone acetate for one year. At the age of 31 yr, she underwent a pelvic ultrasound--which revealed normal volume of the ovaries--and hormonal assays including FSH (69 UI/l), LH (113 UI/l), 17beta-estradiol (88 pg/ml), plasma androgens and cortisol levels within normal ranges. No organ-specific autoantibodies toward ovaries, steroid-producing cells or adrenals were found. At the age of 33 yr, there was ultrasound evidence of streak-like ovaries. The patient's height was 145 cm and her weight 45 kg. She had normal female external genitalia, abnormal upper-to-lower body segment ratio, webbed neck, low posterior hair line, cubitus valgus, short and asymmetrical 4th metacarpi, hallux with lateral deviation and moderate scoliosis. No increase in ovarian steroids were found after GnRH-analogue triptorelin (0,1 mg sc) administration. The karyotype analysis on peripheral blood lymphocytes showed a mosaic 45X (90% cells) and 47XXX (10% cells). Diagnostic pelviscopy confirmed streak gonads. Chronic lymphocytic thyroiditis was diagnosed but no cardiovascular or kidney abnormalities were found. A neuro-psychological evaluation revealed emotional and social immaturity, disorders in motorial coordination, visual-spatial organization, as well as reading difficulties and impaired complex phrase construction. The presence of several somatic features of Turner's syndrome, neuro-psychological disorders and an interesting natural history probably depended on the quantitative proportion of 45X to 47XXX cell-lines in different tissues and organs. Estrogen and progestin replacement therapy led to weight gain, re-appearance of secondary sexual characteristics and a mild improvement in mental equilibrium.
45X/47XXX嵌合体是一种散发性卵巢发育不全形式。先前描述的许多病例具有可变的表型表达特征。我们在此报告一例33岁女性，近期出现继发性闭经、体重减轻和乳房萎缩。她11岁6个月初潮，月经周期一直规律，直到28岁；此后出现月经过少和多毛症。盆腔超声显示多囊样卵巢增大，子宫正常。她接受乙炔雌二醇和醋酸环丙孕酮治疗一年。31岁时，她接受盆腔超声检查，显示卵巢体积正常，并进行了激素检测，包括促卵泡生成素（69 UI/l）、促黄体生成素（113 UI/l）、17β-雌二醇（88 pg/ml），血浆雄激素和皮质醇水平在正常范围内。未发现针对卵巢、类固醇生成细胞或肾上腺的器官特异性自身抗体。33岁时，超声显示条索状卵巢。患者身高145 cm，体重45 kg。她女性外生殖器正常，上下身比例异常，蹼颈，后发际线低，肘外翻，第4掌骨短且不对称，拇趾外侧偏斜，中度脊柱侧弯。注射促性腺激素释放激素类似物曲普瑞林（0.1 mg皮下注射）后未发现卵巢类固醇增加。外周血淋巴细胞核型分析显示为45X（90%细胞）和47XXX（10%细胞）的嵌合体。诊断性盆腔镜检查证实为条索状性腺。诊断为慢性淋巴细胞性甲状腺炎，但未发现心血管或肾脏异常。神经心理学评估显示情绪和社交不成熟，运动协调、视觉空间组织障碍，以及阅读困难和复杂短语构建受损。出现特纳综合征的多种躯体特征、神经心理障碍以及有趣的自然病史可能取决于不同组织和器官中45X与47XXX细胞系的定量比例。雌激素和孕激素替代疗法导致体重增加、第二性征重现以及心理平衡略有改善。
