Department of Endocrinology, Genetics and Metabolism, Fuzhou Children's Hospital of Fujian Medical University, Fuzhou, China.
Front Endocrinol (Lausanne). 2022 Jul 14;13:906852. doi: 10.3389/fendo.2022.906852. eCollection 2022.
The long-term follow-up in children with familial male-limited precocious puberty (FMPP) who were treated with letrozole, triptorelin, and spironolactone is limited, especially considering the efficiency and safety.
We describe the clinical characteristics and long-term treatment with letrozole on adult height of a boy diagnosed with FMPP, confirmed by analysis of the LHCGR gene.
Physical examinations, bone age (BA), testosterone, and gonadotropin levels were measured as well as gene sequencing of the proband and parents.
The boy was referred to the hospital at 3.1 years of age due to peripheral precocious puberty. His height was 116.8cm (+5.1SD) and BA was 9 years. Genetic analysis revealed a patrilineal c.1703C>T.(p.Ala568Val) mutation of the LHCGR gene. After treating with letrozole for 1.6 years, the height according to BA went from -3.52SD to -2.82SD. Triptorelin was added at age 4.7 years based on both the evidence of central puberty and his growth velocity according to BA. During the 6.9 years of treatment, he had a height gain of 51.9cm, and BA increased 5.2 years. At age 10, his present height is 168.7cm (0.05SD) and BA is 14.7 years. No adverse effects of treatment were encountered.
A patrilineal mutation of the LHCGR gene has been identified in a boy with FMPP. His height is 168.7cm (-0.05SD) which is approaching his adult height after long-term treatment with letrozole, triptorelin, and spironolactone.
接受来曲唑、曲普瑞林和螺内酯治疗的家族性男性性早熟（FMPP）儿童的长期随访较为有限，尤其是考虑到治疗的有效性和安全性。
我们描述了一名经 LHCGR 基因分析确诊为 FMPP 的男孩的临床特征和长期来曲唑治疗对成年身高的影响。
对患儿进行体格检查、骨龄（BA）、睾酮和促性腺激素水平检测，并对先证者及其父母进行基因测序。
该男孩因外周性性早熟于 3.1 岁就诊，身高 116.8cm（+5.1SD），BA 为 9 岁。基因分析显示 LHCGR 基因的 c.1703C>T（p.Ala568Val）父系突变。来曲唑治疗 1.6 年后，BA 对应的身高从-3.52SD 降至-2.82SD。4.7 岁时，根据中枢性性早熟的证据和 BA 对应的生长速度，添加曲普瑞林治疗。在 6.9 年的治疗过程中，他的身高增加了 51.9cm，BA 增加了 5.2 岁。10 岁时，他的现身高为 168.7cm（0.05SD），BA 为 14.7 岁。治疗过程中未出现不良反应。
在一名 FMPP 男孩中发现了 LHCGR 基因的父系突变。经过来曲唑、曲普瑞林和螺内酯的长期治疗，他的身高为 168.7cm（-0.05SD），接近成年身高。
