Loh K C, Salisbury S R, Accott P, Gillis R, Crocker J F
Department of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.
J Pediatr Endocrinol Metab. 1997 Sep-Oct;10(5):539-45. doi: 10.1515/jpem.1997.10.5.539.
A 3 year-old boy with chronic renal failure associated with prune belly syndrome who developed central precocious puberty is described. He had been maintained on cyclic peritoneal dialysis from age 13 months with creatinine levels of 400-600 mumol/l. Increased linear growth rate probably began at 18 months, and by 38 months of age he had testicular enlargement and pubic hair consistent with Tanner stage 2. Elevated levels of serum testosterone (3.6 nmol/l; normal < 0.7 nmol/l) and luteinizing hormone (LH) (2.8 IU/l; normal < 1.0 IU/l) were demonstrated with a pubertal response to luteinizing hormone-releasing hormone (LHRH) stimulation (peak LH 43.5 IU/l). Other endocrine tests demonstrated hyperprolactinemia (170 micrograms/l; normal 3.4-22 micrograms/l), but normal pituitary-thyroid and pituitary-adrenal functions and normal cranial MR imaging. Despite LHRH-agonist therapy with leuprolide over the next 8 months, he showed an incomplete response with only partial inhibition of basal LH and testosterone levels, and continued significant increments in height standard deviation scores (Ht-SDS) and bone age estimates. However, the sexual precocity appeared fully reversible following a successful living-related renal transplant at age 50 months. Despite discontinuation of leuprolide treatment post-operatively, there was a full reversal of his serum LH and testosterone to a prepubertal profile as well as normalization of the serum prolactin levels. Whereas most boys with chronic renal failure show delayed pubertal development and suppressed linear growth, our patient presents a unique phenomenon of reversible central precocious puberty. The effects of leuprolide therapy in the presence of a uremic milieu and the outcome of successful renal transplantation on sexual precocity are described.
本文描述了一名3岁患有梅干腹综合征并伴有慢性肾衰竭的男孩,该男孩出现了中枢性性早熟。他自13个月大起接受间歇性腹膜透析治疗,肌酐水平维持在400 - 600 μmol/l。线性生长速度可能在18个月时开始加快,到38个月大时,他出现了睾丸增大和阴毛生长,符合坦纳2期。血清睾酮水平升高(3.6 nmol/l;正常<0.7 nmol/l),促黄体生成素(LH)水平升高(2.8 IU/l;正常<1.0 IU/l),对促性腺激素释放激素(LHRH)刺激有青春期反应(LH峰值43.5 IU/l)。其他内分泌检查显示高泌乳素血症(170 μg/l;正常3.4 - 22 μg/l),但垂体 - 甲状腺和垂体 - 肾上腺功能正常,头颅磁共振成像正常。在接下来的8个月里,尽管使用亮丙瑞林进行LHRH激动剂治疗,但他的反应不完全,仅部分抑制了基础LH和睾酮水平,身高标准差评分(Ht - SDS)和骨龄估计仍持续显著增加。然而,在50个月大时成功进行活体亲属肾移植后性早熟似乎完全可逆。术后停用亮丙瑞林治疗后,他的血清LH和睾酮完全恢复到青春期前水平,血清泌乳素水平也恢复正常。大多数慢性肾衰竭男孩表现为青春期发育延迟和线性生长受抑制,而我们的患者呈现出可逆性中枢性性早熟这一独特现象。本文描述了在尿毒症环境下亮丙瑞林治疗效果以及成功肾移植对性早熟的影响。