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Your search keyword '"Disorder of Sex Development, 46,XY physiopathology"' showing total 2 results
Start Over Descriptor "Disorder of Sex Development, 46,XY physiopathology" Publisher walter de gruyter
2 results on '"Disorder of Sex Development, 46,XY physiopathology"'

1. Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1.

Author

Xu Y, Chen Y, Li N, Hu X, Li G, Ding Y, Li J, Shen Y, Wang X, and Wang J

Subjects
Castration, Child, Preschool, China, DNA Mutational Analysis, Disorder of Sex Development, 46,XY diagnostic imaging, Disorder of Sex Development, 46,XY physiopathology, Disorder of Sex Development, 46,XY surgery, Exons, Female, Gender Identity, Hernia, Inguinal diagnostic imaging, Hernia, Inguinal etiology, Heterozygote, Humans, Introns, Male, Receptors, LH chemistry, Receptors, LH metabolism, Testis diagnostic imaging, Testis physiopathology, Testis surgery, Disorder of Sex Development, 46,XY genetics, Frameshift Mutation, Mutation, Receptors, LH genetics, Testis abnormalities
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.

Published
2018
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2. Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion.

Author

Guaragna-Filho G, Calixto AR, De Paula GB, De Oliveira LC, Morcillo AM, De Mello MP, Maciel-Guerra AT, and Guerra-Junior G

Subjects
3-Oxo-5-alpha-Steroid 4-Dehydrogenase blood, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase deficiency, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase genetics, Adolescent, Adult, Androgen-Insensitivity Syndrome blood, Androgen-Insensitivity Syndrome diagnosis, Androgen-Insensitivity Syndrome genetics, Androgen-Insensitivity Syndrome physiopathology, Child, Child, Preschool, Diagnosis, Differential, Disorder of Sex Development, 46,XY diagnosis, Disorder of Sex Development, 46,XY genetics, Disorder of Sex Development, 46,XY physiopathology, Hospitals, University, Humans, Hypospadias blood, Hypospadias diagnosis, Hypospadias genetics, Hypospadias physiopathology, Karyotype, Male, Membrane Proteins genetics, Outpatient Clinics, Hospital, Receptors, Androgen genetics, Reproducibility of Results, Severity of Illness Index, Steroid Metabolism, Inborn Errors blood, Steroid Metabolism, Inborn Errors diagnosis, Steroid Metabolism, Inborn Errors genetics, Steroid Metabolism, Inborn Errors physiopathology, Steroidogenic Factor 1 genetics, Testis physiopathology, Young Adult, Disorder of Sex Development, 46,XY blood, Enzyme-Linked Immunosorbent Assay, Inhibin-beta Subunits blood, Testis metabolism, Testosterone metabolism
Abstract

Background: Inhibin B is a hormone produced by the Sertoli cells that can provide important information for the investigation of disorders of sex development (DSD) with 46,XY karyotype. The aim of this study is to compare two enzyme-linked immunosorbent assay (ELISA) assays for dosage of serum inhibin B in patients with 46,XY DSD with normal testosterone secretion., Methods: Twenty-nine patients with 46,XY DSD and normal testosterone secretion (partial androgen insensitivity syndrome [PAIS] [n=8]; 5α-reductase deficiency [n=7] and idiopathic 46,XY DSD [n=14]) were included. Molecular analysis of the AR and SRD5A2 genes were performed in all patients and the NR5A1 gene analysis in the idiopathic group. Measurements of inhibin B were performed by two second-generation ELISA assays (Beckman-Coulter and AnshLabs). Assays were compared using the interclass correlation coefficient (ICC) and the Bland-Altman method., Results: ICC was 0.915 [95% confidence interval (CI): 0.828-0.959], however, a discrepancy was observed between trials, which is more evident among higher values when analyzed by the Bland-Altman method., Conclusions: It is recommended to perform the inhibin B measurement always using the same ELISA kit when several evaluations are required for a specific patient.

Published
2018
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