A rare cause of primary amenorrhea: LHCGR gene mutations

Karakaya, Amine Aktar; Çayır, Atilla; Ünal, Edip; Beştaş, Aslı; Solmaz, Aslı Ece; Haspolat, Yusuf Kenan

doi:10.1016/j.ejogrb.2022.03.033

Cited by 2 publications

(1 citation statement)

References 31 publications

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“…Leydig cell hypoplasia (LCH) is a rare autosomal recessive disorder (OMIM# 238,320) caused by inactivating variants of the luteinizing hormone/choriogonadotropin receptor ( LHCGR ) gene in genetic males. The incidence of LCH was estimated to be 1 in a million [ 7 ]. Patients with complete loss of LHCGR function are classified as type I, while type II LCH is a less severe type caused by LHCGR variants that preserve some receptor activation.…”

Section: Introductionmentioning

confidence: 99%

Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II

Hassan,

Mazen,

Elaidy

et al. 2024

Hormones

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Purpose Leydig cell hypoplasia (LCH) type II is a rare disease with only a few cases reported. Patients presented with hypospadias, micropenis, undescended testes, or infertility. In this study, we report a new patient with compound heterozygous variants in the LHCGR gene and LCH type II phenotype. Methods: Whole exome sequencing (WES) was performed followed by Sanger sequencing to confirm the detected variants in the patient and his parents. Results: A novel missense variant (p.Phe444Cys) was identified in a highly conserved site and is verified to be in trans with the signal peptide’s 33-bases insertion variant. Conclusion: Our research provides a more comprehensive clinical and genetic spectrum of Leydig cell hypoplasia type II. It highlighted the importance of WES in the diagnosis of this uncommon genetic disorder as well as the expansion of the genotype of LCH type II.

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Section: Introductionmentioning

confidence: 99%

Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II

Hassan,

Mazen,

Elaidy

et al. 2024

Hormones

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Whole exome sequencing identifies a novel homozygous missense mutation of LHCGR gene in primary infertile women with empty follicle syndrome

Wang²,

Liu

et al. 2023

J of Obstet and Gynaecol

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AimThe genetic basis of empty follicle syndrome (EFS) is largely unknown, and the aim of this study was to investigate the genetic causes of EFS in primary infertile women.MethodsFour affected women diagnosed with anovulation were recruited, and whole exome sequencing (WES) was requested for the genetic diagnosis of the cases. One hundred healthy controls were verified by Sanger sequencing.ResultsA novel homozygous variant of the LHCGR gene (NM_000233:c.1847C>A) was revealed in one affected individual by WES. Trios analysis of the mutation revealed an autosomal recessive pattern. This LHCGR variant was absent in 100 healthy controls and predicted to be highly damaging to the function of LHCGR.ConclusionsThe novel variant extends the mutational spectrum of the LHCGR gene associated with female sterility, which promotes the prognostic value of testing for LHCGR mutations in infertile women with EFS.

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A rare cause of primary amenorrhea: LHCGR gene mutations

Cited by 2 publications

References 31 publications

Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II

Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II

Whole exome sequencing identifies a novel homozygous missense mutation of LHCGR gene in primary infertile women with empty follicle syndrome

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