Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report

BMC Endocrine Disorders

Case Report

Aoki Tobimatsu¹  Izumi Matsuda¹  Yoshinari Obata¹  Yumiko Maruo¹  Motohiro Kosugi¹  Yuhei Uehara¹  Hideyuki Nishikubo¹  Hiroyuki Sho¹  Tetsuyuki Yasuda¹  Kana Takayama¹ 

[1] Department of Diabetes and Endocrinology, Osaka Police Hospital, 10-31 Kitayama-Cho, 543-0035, Tennojiku, Osaka, Japan;

关键词: Combined pituitary hormone deficiency;    CHD7;    CHARGE syndrome;    Case report;   

DOI  :  10.1186/s12902-023-01373-8

 received in 2022-08-24, accepted in 2023-05-14,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundHeterozygous loss-of-function mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene cause CHARGE syndrome characterized by various congenital anomalies. A majority of patients with CHARGE syndrome present with congenital hypogonadotropic hypogonadism (HH), and combined pituitary hormone deficiency (CPHD) can also be present. Whereas CHD7 mutations have been identified in some patients with isolated HH without a diagnosis of CHARGE syndrome, it remains unclear whether CHD7 mutations can be identified in patients with CPHD who do not fulfill the criteria for CHARGE syndrome.Case presentationA 33-year-old woman was admitted to our hospital. She had primary amenorrhea and was at Tanner stage 2 for both pubic hair and breast development. She was diagnosed with CPHD (HH, growth hormone deficiency, and central hypothyroidism), and a heterozygous rare missense mutation (c.6745G > A, p.Asp2249Asn) in the CHD7 gene was identified. Our conservation analysis and numerous in silico analyses suggested that this mutation had pathogenic potential. She had mild intellectual disability, a minor feature of CHARGE syndrome, but did not fulfill the criteria for CHARGE syndrome.ConclusionsWe report a rare case of CPHD harboring CHD7 mutation without CHARGE syndrome. This case provides valuable insights into phenotypes caused by CHD7 mutations. CHD7 mutations can have a continuous phenotypic spectrum depending on the severity of hypopituitarism and CHARGE features. Therefore, we would like to propose a novel concept of CHD7-associated syndrome.

【 授权许可】

CC BY   
© The Author(s) 2023

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