Saviano A, Filosa A, Pasquali D, Lamba M, Siciliani M C, Rinaldi M M, Bellastella A, Sinisi A A
XXIX Divisione di Pediatria, Ospedale Cardarelli, Naples, Italy.
J Pediatr Endocrinol Metab. 1998;11 Suppl 3:997-9.
We describe the occurrence of hypothyroidism and hypogonadotropic hypogonadism in an XY pseudohermaphrodite subject affected by beta-thalassemia. The patient, reared as female, diagnosed at 14 months of age as having a beta 39/Lepore hemoglobinopathy, treated with multiple transfusion therapy, was referred at age of 15 years because of delayed puberty. Complete endocrine evaluation showed low levels, both basal and after combined LHRH-TRH and hCG stimuli, of FSH, LH, TSH, estradiol (E2), testosterone (T), progesterone (P), androstenedione (A), and FT4 levels, and normal PRL, cortisol, 17OHP and ACTH levels. Imaging studies (ultrasound, magnetic resonance, radioisotope scanning and gonadal vessels phlebography) did not show internal genitalia and gonads. Karyotype resulted 46,XY. PCR amplification of the SRY gene confirmed the presence of the Y chromosome. Female genitalia without uterus in a subject with Y chromosome SRY gene, and no detectable testes indicate a condition of male pseudohermaphroditism associated with testicular regression. Low gonadotropin and sex steroid levels are suggestive of combined acquired hypothalamic-pituitary and gonadal impairment, due to iron deposition in both organs. We cannot exclude congenital failure of testosterone synthesis and action in this case, because lack of gonads is an unusual finding in thalassemic hypogonadic subjects.
我们描述了一名患有β地中海贫血的XY假两性畸形患者出现甲状腺功能减退和低促性腺激素性性腺功能减退的情况。该患者自幼被当作女性抚养，14个月大时被诊断为患有β39/Lepore血红蛋白病，接受多次输血治疗，15岁时因青春期发育延迟前来就诊。全面的内分泌评估显示，在促黄体生成素释放激素-促甲状腺激素释放激素（LHRH-TRH）和人绒毛膜促性腺激素（hCG）联合刺激前后，卵泡刺激素（FSH）、促黄体生成素（LH）、促甲状腺激素（TSH）、雌二醇（E2）、睾酮（T）、孕酮（P）、雄烯二酮（A）以及游离甲状腺素（FT4）水平均较低，而催乳素（PRL）、皮质醇、17-羟孕酮（17OHP）和促肾上腺皮质激素（ACTH）水平正常。影像学检查（超声、磁共振、放射性同位素扫描和性腺血管静脉造影）未发现内生殖器和性腺。核型结果为46,XY。SRY基因的聚合酶链反应（PCR）扩增证实了Y染色体的存在。一名具有Y染色体SRY基因的患者出现无子宫的女性生殖器，且未检测到睾丸，这表明存在与睾丸退化相关的男性假两性畸形情况。促性腺激素和性类固醇水平较低提示下丘脑-垂体和性腺联合获得性损伤，这是由于铁在这两个器官中沉积所致。在这种情况下，我们不能排除睾酮合成和作用先天性缺陷的可能性，因为在患有地中海贫血性腺功能减退的患者中，性腺缺失是一个不寻常的发现。
