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- Title
Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report.
- Authors
Obata, Yoshinari; Takayama, Kana; Nishikubo, Hideyuki; Tobimatsu, Aoki; Matsuda, Izumi; Uehara, Yuhei; Maruo, Yumiko; Sho, Hiroyuki; Kosugi, Motohiro; Yasuda, Tetsuyuki
- Abstract
Background: Heterozygous 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 presentation: A 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. Conclusions: We 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.
- Subjects
DIAGNOSIS of deficiency diseases; COMPUTER simulation; HYPOGONADISM; GENETIC mutation; DEFICIENCY diseases; CHARGE syndrome; ENZYMES; DNA-binding proteins; PITUITARY hormones; PHENOTYPES
- Publication
BMC Endocrine Disorders, 2023, Vol 23, Issue 1, p1
- ISSN
1472-6823
- Publication type
Article
- DOI
10.1186/s12902-023-01373-8