Normal Adult Height in an Untreated Boy With McCune-Albright Syndrome Presenting With Precocious Puberty

AACE CLINICAL CASE REPORTS(2023)

引用 1|浏览2
暂无评分
摘要
Background/Objective: We present a boy with McCune-Albright syndrome (MAS)-associated preco-cious puberty (PP) who achieved normal adult height without treatment. Case Report:The patient presented at 10 years of age with PP andfibrous dysplasia of the righthumerus. Examination showed a height 148.7 cm, Tanner 2 pubic hair and 12-15 cc testes. The Boneage (BA) was 13 years with a predicted adult height of 175 cm vs. mid parental target height of 173cm. Laboratory parameters were as follows: luteinizing hormone (LH) 0.745 mIU/mL (0.2-4.9 mIU/mL), follicle stimulating hormone (FSH) 0.933 mIU/mL (1.8-3.2 mIU/mL), testosterone 42 ng/dL (18-150 ng/dL), inhibin B 436.6 pg/mL (41-238 pg/mL) and AMH 36.1 ng/mL (45.26-191.34 ng/mL). TheDNA testing result of tissue from the right humerus was positive forGNASp. R201C mutation con-firming a diagnosis of MAS. Pubertal progression with growth spurt occurred over the next 3 years:growth velocity (GV) 12 cm/y, testosterone 116 ng/dL, LH 0.715 mIU/mL and FSH 1.3 mIU/mL at 10.6years; GV 10.3 cm/y, BA 13 to 13.6 years, testosterone 450 ng/dL, LH 1.7 mIU/mL and FSH 1.4 mIU/mLat 11.7 years; and GV 3.8 cm/y, BA 17 years, Testosterone 668 ng/dL and LH 4.2mIU/mL at 13.3 years.Height was 171.2 cm. Discussion:PP is reported in approximately 15% of boys with MAS. PP leads to BA advancement andreduction infinal adult height. Our patient achieved normal adult height without treatment in theabsence of excess growth hormone. Conclusion:Boys with MAS and PP with slow BA advancement may achieve normal adult heightwithout treatment even in the absence of excess growth hormone. (c) 2023 AACE. Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
更多
查看译文
关键词
boy,McCune -Albright syndrome,precocious puberty,height
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要