Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1
-
Yufei Xu
and
Jian Wang
Abstract
Background:
Leydig cell hypoplasia (LCH) is a rare disease and one of the causes of male disorder of sexual differentiation (DSD). Inactivating mutations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene account for the underlying LCH pathogenicity. This study aimed to analyze the clinical presentation and diagnosis as well as highlight the molecular characteristics of a subject with LCH type 1.
Case presentation:
Clinical data were collected from the subject and analyzed. Next generation sequencing of the immediate family pedigree using peripheral blood genomic DNA was performed, and the relevant mutations were verified with Sanger sequencing. We describe the case of a 5-year-old patient with DSD, presenting with a lateral inguinal hernia accompanied by abnormal hormone tests. The genetic analysis revealed novel compound heterozygous variants in the LHCGR gene, including a splice site mutation (c.681-1 G>A) and a frameshift variant (c.1582_1585del ATAT, p.Ile528*).
Conclusions:
We identified novel compound heterozygous variants in the LHCGR gene, and expanded the genotype-phenotype correlation spectrum of LHCGR variants.
Acknowledgments
We would like to express our gratitude to the patient’s parents for their understanding and cooperation in this study. We are grateful to Dr. Jin Ma of Department of Pathology for histological specimen analysis.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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Articles in the same Issue
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- Association of cord blood ghrelin, leptin and insulin concentrations in term newborns with anthropometric parameters at birth
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- Clinical and cytogenetic features of 516 patients with suspected Turner syndrome – a single-center experience
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- Case Reports
- Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor
- Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency
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- Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1
Articles in the same Issue
- Frontmatter
- Review
- The role of corticosteroid-binding globulin in the evaluation of adrenal insufficiency
- Original Articles
- Association of sodium intake with insulin resistance in Korean children and adolescents: the Korea National Health and Nutrition Examination Survey 2010
- Decrease in serum chemerin through aerobic exercise plus dieting and its association with mitigation of cardio-metabolic risk in obese female adolescents
- Ultrasonographic assessment of pubertal breast development in obese children: compliance with the clinic
- Associations of leptin, insulin and lipids with retinal microvasculature in children and adolescents
- Association of cord blood ghrelin, leptin and insulin concentrations in term newborns with anthropometric parameters at birth
- Management of thyrotoxicosis in children and adolescents: 35 years’ experience in 304 patients
- Clinical and cytogenetic features of 516 patients with suspected Turner syndrome – a single-center experience
- Response to growth hormone treatment in very young patients with growth hormone deficiencies and mini-puberty
- Reference centile curves for wrist circumference for Indian children aged 3–18 years
- Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion
- Genetic mutations associated with neonatal diabetes mellitus in Omani patients
- Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease
- Improved medical-alert ID ownership and utilization in youth with congenital adrenal hyperplasia following a parent educational intervention
- Letter to the Editor
- Identification of five mutations in a patient with galactose metabolic disorders
- Case Reports
- Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor
- Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency
- Insulin-mediated pseudoacromegaly: a report of two pediatric patients
- Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1
