Ozgen Tolga, Güven Ayla, Aydin Murat
Department of Pediatric Endocrinology, Ondokuz Mayis University Faculty of Medicine, Samsun, Turkey.
Turk J Pediatr. 2009 Jul-Aug;51(4):381-3.
Van Wyk-Grumbach syndrome is a rare cause of precocious puberty due to hypothyroidism. We report a case of Van Wyk-Grumbach syndrome in a 4.3-year-old female patient with Down syndrome. She was investigated for hematuria for three months before she was referred to our clinic. Physical examination revealed typical morphologic features of Down syndrome and hypothyroidism. Pubertal development stages were: breast at stage III and pubic hair at stage I. In luteinizing hormone releasing hormone (LHRH) stimulation test, peak LH level remained less than 0.1 mIU/ml. Serum estradiol level was 117.7 pg/ml, which was higher than normal for her age (normal range: 2-15 pg/ml). The pelvic ultrasonographic evaluation revealed bilateral multicystic enlarged ovaries. Serum thyroid stimulating hormone (TSH) concentration was higher than 500 microIU/ml and free thyroxin (FT4) and free triiodothyronine (FT3) levels were as low as 0.4 ng/dl (0.7-1.48) and 1.0 pg/ml (1.71-3.71), respectively. L-thyroxin treatment at a dose of 100 microg/m2/day was started. Regression in breast development was obtained after one month and her bleeding did not repeat again. In conclusion, urinary and vaginal bleeding in young children must be clearly differentiated, and hypothyroidism must be investigated in children who have precocious puberty.
范·怀克 - 格伦巴赫综合征是一种因甲状腺功能减退导致性早熟的罕见病因。我们报告一例患有唐氏综合征的4.3岁女性患者的范·怀克 - 格伦巴赫综合征病例。在转诊至我们诊所之前，她因血尿接受了三个月的检查。体格检查发现了唐氏综合征和甲状腺功能减退的典型形态学特征。青春期发育阶段为：乳房III期，阴毛I期。在促黄体生成素释放激素（LHRH）刺激试验中，促黄体生成素（LH）峰值水平仍低于0.1 mIU/ml。血清雌二醇水平为117.7 pg/ml，高于其年龄的正常范围（正常范围：2 - 15 pg/ml）。盆腔超声检查显示双侧多囊性卵巢增大。血清促甲状腺激素（TSH）浓度高于500 microIU/ml，游离甲状腺素（FT4）和游离三碘甲状腺原氨酸（FT3）水平分别低至0.4 ng/dl（0.7 - 1.48）和1.0 pg/ml（1.71 - 3.71）。开始给予剂量为100 microg/m2/天的左甲状腺素治疗。一个月后乳房发育出现消退，且她不再出血。总之，必须明确区分幼儿的血尿和阴道出血，对于患有性早熟的儿童必须检查是否存在甲状腺功能减退。
