Molecular Analysis of a Family With Congenital Adrenal Hyperplasia - Genotype/Phenotype Discrepancy

Bibliographic Details
Published in:	Balkan Journal of Medical Genetics
Main Authors:	Anastasovska V, Kocova M
Format:	Article
Language:	English
Published:	Sciendo 2007-01-01
Subjects:	congenital adrenal hyperplasia (cah) cyp mutations phenotype
Online Access:	https://doi.org/10.2478/v10034-008-0003-3

Similar Items

Congenital Adrenal Hyperplasia (CAH) - Causes, Diagnosis, Symptoms, Treatment
by: Oskar Targoński, et al.
Published: (2024-11-01)

Intron 2 Splice Mutation at CYP21 Gene in Patients with Congenital Adrenal Hyperplasia in the Republic of Macedonia
by: Anastasovska V, et al.
Published: (2010-01-01)

Cardiometabolic Health in Adolescents and Young Adults with Congenital Adrenal Hyperplasia
by: Ruta Navardauskaite, et al.
Published: (2022-03-01)

Impact of Newborn Screening on Clinical Presentation of Congenital Adrenal Hyperplasia
by: Rūta Navardauskaitė, et al.
Published: (2021-09-01)

Course of COVID-19 infection in patients with congenital adrenal hyperplasia
by: Rida Javaid, et al.
Published: (2024-02-01)

The Relative Prevalence of Testicular Adrenal Rest Tumors in Fewer than 20-Years-Old Boys with Congenital Adrenal Hyperplasia
by: Mohammad Hassan Moadab, et al.
Published: (2014-09-01)

Congenital Adrenal Hyperplasia: A Review of Current Knowledge and Future Directions
by: Zuzanna Szczepaniak, et al.
Published: (2024-09-01)

Case Report of an Adult Female with Neglected Congenital Adrenal Hyperplasia (CAH)
by: Gayathri Krishnan, et al.
Published: (2018-10-01)

Comparison of modified-release hydrocortisone capsules versus prednisolone in the treatment of congenital adrenal hyperplasia
by: Aled Daffyd Rees, et al.
Published: (2024-07-01)

Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
by: Robert Saho, et al.
Published: (2023-03-01)

A p.P30L Mutation at the CYP21A2 Gene in Macedonian Patients with Nonclassical Congenital Adrenal Hyperplasia
by: Anastasovska V, et al.
Published: (2010-01-01)

Rare nonclassic type of Congenital adrenal hyperplasia due to 21-hydroxylase deficiency and genotype-phenotypic correlation
by: Yanru Hou, et al.
Published: (2024-03-01)

Corrigendum: The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
by: Duarte Pignatelli, et al.
Published: (2020-03-01)

A Rare Case of Co-occurrence of Multiple Endocrine Neoplasia Syndrome and Congenital Adrenal Hyperplasia
by: A. S. Bondarenko, et al.
Published: (2024-04-01)

Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera
by: Qizong Lao, et al.
Published: (2023-07-01)

Scrotal Ultrasonography Features of Testicular Adrenal Rest Tumors in Male Congenital Adrenal Hyperplasia Patients: A Systematic Review
by: Epifani A. Chandra, et al.
Published: (2025-03-01)

A TNXB splice donor site variant as a cause of hypermobility type Ehlers–Danlos syndrome in patients with congenital adrenal hyperplasia
by: Qizong Lao, et al.
Published: (2021-02-01)

Bone mineral density determinants in adolescents and young adults with congenital adrenal hyperplasia
by: Ruta Navardauskaite, et al.
Published: (2024-10-01)

Giant bilateral adrenal myelolipomas in two Chinese families with congenital adrenal hyperplasia
by: Qiuli Liu, et al.
Published: (2018-10-01)

Clinical and molecular review of atypical congenital adrenal hyperplasia
by: Taninee Sahakitrungruang
Published: (2015-03-01)

Molecular characterization of the new clinical entity associated with congenital adrenal hyperplasia: the CAH-X syndrome in the Spanish population
by: Figueras Laura Martínez, et al.
Published: (2023-08-01)

Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients
by: Stefan Riedl, et al.
Published: (2019-01-01)

Phenotypic spectrum and diagnostic challenges in non-21-alpha-hydroxylase deficiency congenital adrenal hyperplasia: a case series from a tertiary care center
by: Sheya Anand, et al.
Published: (2025-01-01)

Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
by: Rolf H. Zetterström, et al.
Published: (2020-08-01)

Bone Mineral Density in Children with Congenital Adrenal Hyperplasia
by: Karishma, et al.
Published: (2024-04-01)

Congenital Adrenal Hyperplasia and Adrenal Insufficiency in Children: An Evidence-based Review with Good Practice Points by Adrenal Working Group of The Turkish Society for Pediatric Endocrinology and Diabetes
by: Zeynep Şıklar
Published: (2025-01-01)

Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
by: Tania Mayvel Espinosa Reyes, et al.
Published: (2020-11-01)

THE DNA-DIAGNOSTICS FORM CONGENITAL ADRENAL HYPERPLASIA CHILDREN
by: V. V. Grigoryan, et al.
Published: (2017-07-01)

Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia: Study of a Cohort of Patients from a Single Italian Center
by: Rita Ortolano, et al.
Published: (2023-08-01)

Treatment patterns and unmet needs in adults with classic congenital adrenal hyperplasia: A modified Delphi consensus study
by: Richard J. Auchus, et al.
Published: (2022-11-01)

Growth Assessment and Nutritional Status in Children with Congenital Adrenal Hyperplasia—A Cross-Sectional Study from a Vietnamese Tertiary Pediatric Center
by: Thi Thuy Hong Nguyen, et al.
Published: (2025-06-01)

Evaluation of a New Laboratory Protocol for Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand
by: Mark R. de Hora, et al.
Published: (2022-10-01)

Corrigendum: A Rare Case of Co-occurrence of Multiple Endocrine Neoplasia Syndrome and Congenital Adrenal Hyperplasia. (Obesity and metabolism. 2024;21(1):79-84. doi: https://doi.org/10.14341/omet13015)
by: A. S. Bondarenko, et al.
Published: (2024-08-01)

Klitoroplastika in congenital adrenal hyperplasia
by: V. V. Mikhaylichenko, et al.
Published: (2014-11-01)

Klitoroplastika in congenital adrenal hyperplasia
by: V. V. Mikhaylichenko, et al.
Published: (2014-11-01)

Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines
by: Christopher N. Greene, et al.
Published: (2014-01-01)

The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family
by: Mirjana Kocova, et al.
Published: (2019-06-01)

Undiagnosed congenital adrenal hyperplasia in a young woman: MRI insights into complex genital malformations
by: Sofia Bianchi, MD, et al.
Published: (2025-07-01)

Congenital adrenal hyperplasia disorder due to 17 α-hydroxylase deficiency: a case report
by: Yunling Tian, et al.
Published: (2023-12-01)

A patient with primary amenorrhoea and hypertension: 17 á hydroxylase deficiency – a rare cause of congenital adrenal hyperplasia
by: W. C. K. Jayawardena, et al.
Published: (2010-07-01)