Genotype-phenotype correlation in patients with 21-hydroxylase deficiency

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Abstract

Introduction

21-hydroxylase deficiency (21OHD) is the most common cause of congenital adrenal hyperplasia (CAH). However, patients with 21OHD manifest various phenotypes due to a wide-spectrum residual enzyme activity of different CYP21A2 mutations.

Methods

A total of 15 individuals from three unrelated families were included in this study. Target Capture-Based Deep Sequencing and Restriction Fragment Length Polymorphism was conducted on peripheral blood DNA of the three probands to identify potential mutations/deletions in CYP21A2; Sanger sequencing was conducted with the DNA from the family members of the probands.

Results

Dramatically different phenotypes were seen in the three probands of CAH with different compound heterozygous mutations in CYP21A2. Proband 1 manifested simple virilizing with mutations of 30-kb deletion/c.[188A>T;518T>A], the latter is a novel double mutants classified as SV associated mutation. Although both probands carry the same compound mutations [293-13C>G]:[518T>A], gonadal dysfunction and giant bilateral adrenal myelolipoma were diagnosed for proband 2 and proband 3, respectively.

Conclusion

Both gender and mutations contribute to the phenotypes, and patients with the same compound mutations and gender could present with different phenotypes. Genetic analysis could help the etiologic diagnosis, especially for atypical 21OHD patients.

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Most cited references 32

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Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline

Phyllis W Speiser, Wiebke Arlt, Richard Auchus … (2018)

To update the congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency clinical practice guideline published by the Endocrine Society in 2010.

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Congenital adrenal hyperplasia

Wiebke Arlt, Deborah P. Merke, Diala El-Maouche (2017)

Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing enzyme deficiencies in the adrenal steroidogenesis pathway that lead to impaired cortisol biosynthesis. Depending on the type and severity of steroid block, patients can have various alterations in glucocorticoid, mineralocorticoid, and sex steroid production that require hormone replacement therapy. Presentations vary from neonatal salt wasting and atypical genitalia, to adult presentation of hirsutism and irregular menses. Screening of neonates with elevated 17-hydroxyprogesterone concentrations for classic (severe) 21-hydroxylase deficiency, the most common type of congenital adrenal hyperplasia, is in place in many countries, however cosyntropin stimulation testing might be needed to confirm the diagnosis or establish non-classic (milder) subtypes. Challenges in the treatment of congenital adrenal hyperplasia include avoidance of glucocorticoid overtreatment and control of sex hormone imbalances. Long-term complications include abnormal growth and development, adverse effects on bone and the cardiovascular system, and infertility. Novel treatments aim to reduce glucocorticoid exposure, improve excess hormone control, and mimic physiological hormone patterns.

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Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Julie Ingelfinger, Deborah P. Merke, Richard Auchus (2020)

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Author and article information

Contributors

Peng Tang: URI : https://loop.frontiersin.org/people/2139395

Jun Zhang: URI : https://loop.frontiersin.org/people/1115726

Song Peng: URI : https://loop.frontiersin.org/people/1138590

Yapeng Wang: URI : https://loop.frontiersin.org/people/1828357

Haoyang Li: URI : https://loop.frontiersin.org/people/2191350

Ze Wang: URI : https://loop.frontiersin.org/people/1828362

Yao Zhang: URI : https://loop.frontiersin.org/people/1028315

Yiqiang Huang: URI : https://loop.frontiersin.org/people/1028445

Jing Xu: URI : https://loop.frontiersin.org/people/1028353

Dianzheng Zhang: URI : https://loop.frontiersin.org/people/1028615

Qiuli Liu: URI : https://loop.frontiersin.org/people/1028403

Luofu Wang: URI : https://loop.frontiersin.org/people/1028453

Weihua Lan: URI : https://loop.frontiersin.org/people/949674

Jun Jiang: URI : https://loop.frontiersin.org/people/949195

Journal

Journal ID (nlm-ta): Front Endocrinol (Lausanne)

Journal ID (iso-abbrev): Front Endocrinol (Lausanne)

Journal ID (publisher-id): Front. Endocrinol.

Title: Frontiers in Endocrinology

Publisher: Frontiers Media S.A.

ISSN (Electronic): 1664-2392

Publication date (Electronic): 13 March 2023

Publication date Collection: 2023

Volume: 14

Electronic Location Identifier: 1095719

Affiliations

[1] ¹ Department of Urology, Daping Hospital, Army Medical University , Chongqing, China

[2] ² Fifteen Squadron Five Brigade, School of Basic Medical Science, Army Medical University , Chongqing, China

[3] ³ Department of Bio-Medical Sciences, Philadelphia College of Osteopathic Medicine , Philadelphia, PA, United States

Author notes

Edited by: Semra Çaglar Çetinkaya, University of Health Sciences, Türkiye

Reviewed by: Sifeng Qu, Shandong University, China; Tony Yuen, Icahn School of Medicine at Mount Sinai, United States

*Correspondence: Jun Jiang, jiangjun_64@ 123456163.com ; Weihua Lan, doclan@ 123456yeah.net

†These authors have contributed equally to this work and share first authorship

This article was submitted to Adrenal Endocrinology, a section of the journal Frontiers in Endocrinology

Article

DOI: 10.3389/fendo.2023.1095719

PMC ID: 10042299

SO-VID: 3f38bd66-0757-4a85-a354-a02307dca39f

License:

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

History

Date received : 11 November 2022

Date accepted : 26 January 2023

Page count

Figures: 3, Tables: 2, Equations: 0, References: 32, Pages: 7, Words: 2843

Funding

Funded by: Army Medical University , doi 10.13039/501100012397;

Award ID: 2018XLC3073 , 2018XLC1014

This work was supported by University Research Project of Army Medical University (2018XLC3073 for JZ; 2018XLC1014 and 2019CXLCB006 for JJ).

Genotype-phenotype correlation in patients with 21-hydroxylase deficiency

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Abstract

Introduction

Methods

Results

Conclusion

Related collections

Journal of the ASEAN Federation of Endocrine Societies

Most cited references 32

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline

Congenital adrenal hyperplasia

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

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