FGFR1错义变异患者合并垂体激素缺乏:病例报告和文献综述

IF 1 Q4 ENDOCRINOLOGY & METABOLISM
Clinical Pediatric Endocrinology Pub Date : 2022-01-01 Epub Date: 2022-04-23 DOI:10.1297/cpe.2022-0020
Shinichiro Sano, Yohei Masunaga, Fumiko Kato, Yasuko Fujisawa, Hirotomo Saitsu, Tsutomu Ogata
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引用次数: 0

摘要

最近的研究表明,成纤维细胞生长因子受体1 (FGFR1)的杂合功能缺失变异参与先天性促性腺功能低下和合并垂体激素缺乏症(CPHD)的发展。我们遇到了一个身材矮小、青春期发育失败的日本男孩。内分泌研究显示GH、TSH和LH/FSH缺乏,脑磁共振成像显示垂体前叶发育不全和垂体后叶异位。患者接受生长激素、l-甲状腺素和hCG/rFSH治疗。新一代垂体功能障碍测序面板鉴定了FGFR1中可能存在的弱疾病相关杂合错义变异(NM_023110.3: C . 176a >T:p.(Asp59Val)),以及KISS1R中可能存在的非有害杂合错义变异(NM_032551.5: C . 769g >C:p.(Val257Leu))。我们还回顾了先前报道的6例可能存在有害FGFR1变异的CHPD患者。该数据与先前报道的病例相结合,证明FGFR1变异与CPHD的发展相关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Combined pituitary hormone deficiency in a patient with an <i>FGFR1</i> missense variant: case report and literature review.

Combined pituitary hormone deficiency in a patient with an <i>FGFR1</i> missense variant: case report and literature review.

Combined pituitary hormone deficiency in a patient with an <i>FGFR1</i> missense variant: case report and literature review.

Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review.

Recent studies have indicated that heterozygous loss-of-function variants in fibroblast growth factor receptor 1 (FGFR1) are involved in the development of congenital hypogonadotropic hypogonadism and combined pituitary hormone deficiency (CPHD). We encountered a Japanese boy with short stature and pubertal failure. Endocrine studies showed GH, TSH, and LH/FSH deficiencies, and brain magnetic resonance imaging delineated hypoplastic anterior pituitary and ectopic posterior pituitary. The patient was treated with GH, l-thyroxine, and hCG/rFSH. Next-generation sequencing panel for pituitary dysfunction identified a probably weak disease-associated heterozygous missense variant in FGFR1 (NM_023110.3:c.176A>T:p.(Asp59Val)), together with a probably non-deleterious heterozygous missense variant in KISS1R (NM_032551.5:c.769G>C:p.(Val257Leu)). We also review six previously reported CHPD patients with probably deleterious FGFR1 variants. The data, in conjunction with the previously reported cases, argue for the relevance of FGFR1 variants to the development of CPHD.

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来源期刊
Clinical Pediatric Endocrinology
Clinical Pediatric Endocrinology ENDOCRINOLOGY & METABOLISM-
CiteScore
2.40
自引率
7.10%
发文量
34
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