Associated Papers
[Non-classic lipoid adrenal hyperplasia: clinical cases report].
Sichinava IG et al.
Problemy Endokrinologii, 2026
Clinical and genetic characteristics of rare congenital adrenal hyperplasia: a retrospective analysis in a Chinese population.
Chan K et al.
Frontiers in Genetics, 2026
Rare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management.
Cavarzere P et al.
Journal of Endocrinological Investigation, 2025
Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.
Zhang L et al.
Genome Medicine, 2025
Single-Center Experience in Five Patients Diagnosed with Lipoid Congenital Adrenal Hyperplasia Due to Steroidogenic Acute Regulatory Protein (STAR) Gene Variants: A Rare Cause of Adrenal Insufficiency.
Çetin K et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
STAR/STARD1: a mitochondrial intermembrane space cholesterol shuttle degraded through mitophagy.
Koganti PP et al.
Biorxiv : the Preprint Server for Biology, 2025
Early genetic sequencing in neonates with hyperkalemia: a retrospective cross-sectional study.
Liang W et al.
Translational Pediatrics, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Rare forms of congenital adrenal hyperplasia.
Gurpinar Tosun B et al.
Clinical Endocrinology, 2024
Clinical spectrum of human STAR variants and their genotype-phenotype correlation.
Altinkilic EM et al.
The Journal of Endocrinology, 2024
Novel STAR Gene Variant of Congenital Lipoid Adrenal Hyperplasia With Testicular Adrenal Rests.
Harinarayan CV et al.
Jcem Case Reports, 2024
Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation.
Phadte A et al.
Clinical Endocrinology, 2024
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients.
Duan Y et al.
Journal of Medical Genetics, 2023
New molecular insights into the A218V variant impact on the steroidogenic acute regulatory protein (STAR) associated with 46, XY disorders of sexual development.
Aghaei S et al.
Molecular Genetics and Genomics : Mgg, 2023
Clinical and functional analyses of the novel STAR c.558C>A in a patient with classic lipoid congenital adrenal hyperplasia.
Liu J et al.
Frontiers in Genetics, 2023
Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation.
Bakkar AA et al.
Clinical Medicine Insights. Endocrinology and Diabetes, 2023
Congenital lipoid adrenal hyperplasia with Graves' disease: A case report.
Wang YJ et al.
World Journal of Clinical Cases, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
Clinical characteristics of a male child with non-classic lipoid congenital adrenal hyperplasia and literature review.
Lu W et al.
Frontiers in Endocrinology, 2022
Clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia.
Li Z et al.
Bmc Endocrine Disorders, 2021
Diverse etiologies, diagnostic approach, and management of primary adrenal insufficiency in pediatric age.
Yoo HW
Annals of Pediatric Endocrinology & Metabolism, 2021
Clinical and molecular characterization of thirty Chinese patients with congenital lipoid adrenal hyperplasia.
Zhang T et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2021
Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited.
Ishii T et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Clinical and genetic characterization of congenital lipoid adrenal hyperplasia.
Ullah A et al.
Clinical Dysmorphology, 2020
Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia.
Katharopoulos E et al.
International Journal of Molecular Sciences, 2020
Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue.
Bae H et al.
Annals of Pediatric Endocrinology & Metabolism, 2020
Congenital lipoid adrenal hyperplasia: Immunohistochemical study of testosterone synthesis in Leydig cells.
Matsuoka K et al.
Iju Case Reports, 2020
Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant.
Balsamo A et al.
Frontiers in Pediatrics, 2020
Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review.
Ishii T et al.
Journal of the Endocrine Society, 2019
Pubertal Development and Pregnancy Outcomes in 46,XX Patients With Nonclassic Lipoid Congenital Adrenal Hyperplasia.
Hatabu N et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Steroidogenic Acute Regulatory Protein: Structure, Functioning, and Regulation.
Tugaeva KV et al.
Biochemistry. Biokhimiia, 2019
Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation.
Zhao X et al.
Bmc Endocrine Disorders, 2018
MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.
Miller WL
European Journal of Endocrinology, 2018
KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses.
Kim J et al.
Scientific Reports, 2018
Mutational analysis of rare subtypes of congenital adrenal hyperplasia in a highly inbred population.
Alswailem MM et al.
Molecular and Cellular Endocrinology, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Genetic defects in pediatric-onset adrenal insufficiency in Japan.
Amano N et al.
European Journal of Endocrinology, 2017
Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia.
Kang E et al.
Molecular Medicine (cambridge, Mass.), 2017
Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency.
Bizzarri C et al.
Italian Journal of Pediatrics, 2017
Genetics of Congenital Adrenal Hyperplasia.
Hannah-Shmouni F et al.
Endocrinology and Metabolism Clinics of North America, 2017
Disorders in the initial steps of steroid hormone synthesis.
Miller WL
The Journal of Steroid Biochemistry and Molecular Biology, 2017
De novo disruption of promoter and exon 1 of STAR gene reveals essential role for gonadal development.
Piya A et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2017
Successful IVF pregnancy despite inadequate ovarian steroidogenesis due to congenital lipoid adrenal hyperplasia (CLAH): a case report.
Albarel F et al.
Human Reproduction (oxford, England), 2016
Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia.
Huang Z et al.
Steroids, 2016
Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient.
Kaur J et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2016
Thirty-Eight-Year Follow-Up of Two Sibling Lipoid Congenital Adrenal Hyperplasia Patients Due to Homozygous Steroidogenic Acute Regulatory (STARD1) Protein Mutation. Molecular Structure and Modeling of the STARD1 L275P Mutation.
Khoury K et al.
Frontiers in Neuroscience, 2016
[Clinical features and StAR gene mutations in children with congenital lipoid adrenal hyperplasia].
Xie T et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015
Clinical and molecular review of atypical congenital adrenal hyperplasia.
Sahakitrungruang T
Annals of Pediatric Endocrinology & Metabolism, 2015
Congenital lipoid adrenal hyperplasia.
Kim CJ
Annals of Pediatric Endocrinology & Metabolism, 2014
STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.
Camats N et al.
Clinical Endocrinology, 2014