Combined pituitary hormone deficiency in a patient with an <i>FGFR1</i> missense variant: case report and literature review-Reference-Cited by-同舟云学术

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

Published:2022 Issue:3 Volume:31 Page:172-177
ISSN:0918-5739
Container-title:Clinical Pediatric Endocrinology
language:en
Short-container-title:Clin Pediatr Endocrinol

Author:

Sano Shinichiro¹,Masunaga Yohei²,Kato Fumiko³,Fujisawa Yasuko²,Saitsu Hirotomo⁴,Ogata Tsutomu²

Affiliation:

1. Department of Pediatric Endocrinology and Metabolism, Shizuoka Children’s Hospital, Shizuoka, Japan

2. Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan

3. Hamamatsu Child Health and Developmental Medicine, Hamamatsu, Japan

4. Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan

Publisher

Japanese Society for Pediatric Endocrinology

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.jstage.jst.go.jp/article/cpe/31/3/31_2022-0020/_pdf

Reference7 articles.

1. 1. Boehm, U, Bouloux, PM, Dattani, MT, de Roux, N, Dodé, C, Dunkel, L, et al. Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment. Nat Rev Endocrinol 2015;11: 547–64.

2. 2. Raivio, T, Avbelj, M, McCabe, MJ, Romero, CJ, Dwyer, AA, Tommiska, J, et al. Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. J Clin Endocrinol Metab 2012;97: E694–9.

3. 3. Erbaş, İM, Paketçi, A, Acar, S, Kotan, LD, Demir, K, Abacı, A, et al. A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency. J Pediatr Endocrinol Metab 2020;33: 1613–5.

4. 4. Correa, FA, Trarbach, EB, Tusset, C, Latronico, AC, Montenegro, LR, Carvalho, LR, et al. FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies. Endocr Connect 2015;4: 100–7.

5. 5. Fukami, M, Iso, M, Sato, N, Igarashi, M, Seo, M, Kazukawa, I, et al. Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency. Endocr J 2013;60: 1013–20.

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