A case report of congenital idiopathic hypogonadotropic hypogonadism caused by novel mutation of GNRHR gene

Abstract Background Variants of chromodomain helicase DNA binding protein 7 (CHD7) gene are commonly associated with Kallmann syndrome (KS) and account for 5–6% of idiopathic hypogonadotropic hypogonadism (IHH) cases. Here we report a novel mutation of CHD7 gene in a patient with KS, which may contribute to the better understanding of KS. Case presentation A 29-year-old male patient with KS and a chief complaint of delayed puberty for 13 years (Tanner B Stage< 4) was admitted to the Department of Endocrinology of the First Affiliated Hospital of Zhejiang University (Hangzhou, China) in September 2019. Dual-energy X-ray absorptiometry (DEXA) showed low bone density in both lumbar spine (L1 ~ L5 mean Z-score − 3.0) and femoral neck (Z-score − 2.7). Dynamic contrast-enhanced magnetic resonance imaging (MRI) of pituitary and contrast-enhanced computed tomography (CT) showed no abnormal findings. Ophthalmological evaluation showed that his both eyes showed exotropia, and no sight loss was noted. Heterozygous c.1619G > T mutation of TCD7 gene (p.G4856V) was detected, whereas none of his family members had this mutation. Human chorionic gonadotropin (HCG) and human menopausal gonadotropin (HMG) were injected for three times/week to treat idiopathic hypogonadotropic hypogonadism (IHH). After several months of therapy, the patient’s health condition improved. His testicles became larger, and his secondary sexual characteristics improved after treatment. Conclusion Exploration of the novel splice-site mutation of CHD7 may further our current understanding of KS.

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A case of idiopathic hypogonadotropic hypogonadism which attained remission by LH and FSH treatment

Endocrine Abstracts ◽

10.1530/endoabs.32.p671 ◽

2013 ◽

Author(s):

Yui Watanabe ◽

Takeshi Hayashi ◽

Hiroyuki Yamazaki ◽

Katsuyoshi Tojo ◽

Kazunori Utsunomiya

Keyword(s):

Hypogonadotropic Hypogonadism ◽

Idiopathic Hypogonadotropic Hypogonadism

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Mutations in HS6ST1 are causal in self-limited delayed puberty as well as idiopathic hypogonadotropic hypogonadism

Endocrine Abstracts ◽

10.1530/endoabs.38.oc6.3 ◽

2015 ◽

Author(s):

Sasha Howard ◽

Ariel Poliandri ◽

Helen Storr ◽

Louise Metherell ◽

Claudia Cabrera ◽

...

Keyword(s):

Hypogonadotropic Hypogonadism ◽

Delayed Puberty ◽

Idiopathic Hypogonadotropic Hypogonadism

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Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience

Journal of the Formosan Medical Association ◽

10.1016/j.jfma.2021.03.010 ◽

2021 ◽

Author(s):

Chih-Yi Cho ◽

Wen-Yu Tsai ◽

Cheng-Ting Lee ◽

Shih-Yao Liu ◽

Shu-Yuan Huang ◽

...

Keyword(s):

Hypogonadotropic Hypogonadism ◽

Single Center ◽

Idiopathic Hypogonadotropic Hypogonadism ◽

Single Center Experience ◽

Molecular Features

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Rhabdomyolysis, Acute Kidney Injury, and a Novel Frameshift Mutation in a Child with Glutaric Acidemia Type I

Nephron ◽

10.1159/000515012 ◽

2021 ◽

pp. 1-6

Author(s):

Linlin Huang ◽

Ting Shi ◽

Ying Li ◽

Xiaozhong Li

Keyword(s):

Acute Kidney Injury ◽

Case Report ◽

Frameshift Mutation ◽

Novel Mutation ◽

Kidney Injury ◽

Febrile Illness ◽

Type I ◽

Continuous Venovenous Hemodiafiltration ◽

Glutaric Acidemia Type I ◽

Acute Decompensation

This is a case report of a girl with glutaric acidemia type I (GA-I) who experienced rhabdomyolysis and acute kidney injury (AKI). Her first acute metabolic crisis occurred at the age of 5 months, which mainly manifested as irritable crying, poor appetite, and hyperlactatemia. Mutation analysis showed 2 pathogenic mutations in the glutaryl-CoA dehydrogenase (GCDH) gene, which were c.383G>A (p.R128Q) and c.873delC (p.N291Kfs*41), the latter of which is a novel frameshift mutation of GA-I. She had a febrile illness at the age of 12 months, followed by AKI and severe rhabdomyolysis. Four days of continuous venovenous hemodiafiltration (CVVHDF) helped to overcome this acute decompensation. This case report describes a novel mutation in the GCDH gene, that is, c.873delC (p.N291Kfs*41). Also, it highlights the fact that patients with GA-I have a high risk of rhabdomyolysis and AKI, which may be induced by febrile diseases and hyperosmotic dehydration; CVVHDF can help to overcome this acute decompensation.

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