Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. Between 90% and 99% of cases of CAH are caused by 21-hydroxylase deficiency (21-OHD) caused by mutations in CYP21A2. Although 21-OHD has been historic...
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Galenos Yayincilik
2025-01-01
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| author | Sevinç Odabaşı Güneş Havva Nur Peltek Kendirci Edip Ünal Ayşe Derya Buluş İsmail Dündar Zeynep Şıklar |
| author_facet | Sevinç Odabaşı Güneş Havva Nur Peltek Kendirci Edip Ünal Ayşe Derya Buluş İsmail Dündar Zeynep Şıklar |
| author_sort | Sevinç Odabaşı Güneş |
| collection | DOAJ |
| description | Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. Between 90% and 99% of cases of CAH are caused by 21-hydroxylase deficiency (21-OHD) caused by mutations in CYP21A2. Although 21-OHD has been historically divided into classical and non-classical forms, it is now thought to show a continuous phenotype. In the classical form, the external genitalia in females becomes virilized to varying degrees. If the disease is not recognized, salt wasting crises in the classical form may threaten life in neonates. Children experience accelerated somatic growth, increased bone age, and premature pubic hair in the simple virilizing form of classical 21-OHD. Female adolescents may present with severe acne, hirsutism, androgenic alopecia, menstrual irregularity or primary amenorrhea in the non-classical form. Diagnosis of CAH is made by clinical, biochemical and molecular genetic evaluation. In cases of 21-OHD, the diagnosis is based on the 17-hydroxyprogesterone (17-OHP) level being above 1000 ng/dL, measured early in the morning. In cases with borderline 17-OHP levels (200-1000 ng/dL), it is recommended to perform an adrenocorticotropic hormone (ACTH) stimulation test. Genotyping in cases with CAH should be performed if the adrenocortical profile is suspicious or if the ACTH stimulation test cannot be performed completely. After diagnosis, determining the carrier status of the parents and determining which parent the mutation was passed on from will help in interpreting the genetic results and determining the risk of recurrence in subsequent pregnancies. |
| format | Article |
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| institution | Kabale University |
| issn | 1308-5727 1308-5735 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Galenos Yayincilik |
| record_format | Article |
| series | JCRPE |
| spelling | doaj-art-ab4b9e4cb4bb405b8563368702309e6b2025-08-20T03:51:58ZengGalenos YayincilikJCRPE1308-57271308-57352025-01-0117Suppl 131110.4274/jcrpe.galenos.2024.2024-6-6-SJCRPE-15238Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase DeficiencySevinç Odabaşı Güneş0Havva Nur Peltek Kendirci1Edip Ünal2Ayşe Derya Buluş3İsmail Dündar4Zeynep Şıklar5University of Health Sciences Turkey, Gülhane Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, TurkeyHitit University Faculty of Medicine, Department of Pediatric Endocrinology, Çorum, TurkeyDicle University Faculty of Medicine, Department of Pediatric Endocrinology, Diyarbakır, TurkeyKeçiören Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkeyİnönü University Faculty of Medicine, Department of Pediatric Endocrinology, Malatya, TurkeyAnkara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, TurkeyCongenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. Between 90% and 99% of cases of CAH are caused by 21-hydroxylase deficiency (21-OHD) caused by mutations in CYP21A2. Although 21-OHD has been historically divided into classical and non-classical forms, it is now thought to show a continuous phenotype. In the classical form, the external genitalia in females becomes virilized to varying degrees. If the disease is not recognized, salt wasting crises in the classical form may threaten life in neonates. Children experience accelerated somatic growth, increased bone age, and premature pubic hair in the simple virilizing form of classical 21-OHD. Female adolescents may present with severe acne, hirsutism, androgenic alopecia, menstrual irregularity or primary amenorrhea in the non-classical form. Diagnosis of CAH is made by clinical, biochemical and molecular genetic evaluation. In cases of 21-OHD, the diagnosis is based on the 17-hydroxyprogesterone (17-OHP) level being above 1000 ng/dL, measured early in the morning. In cases with borderline 17-OHP levels (200-1000 ng/dL), it is recommended to perform an adrenocorticotropic hormone (ACTH) stimulation test. Genotyping in cases with CAH should be performed if the adrenocortical profile is suspicious or if the ACTH stimulation test cannot be performed completely. After diagnosis, determining the carrier status of the parents and determining which parent the mutation was passed on from will help in interpreting the genetic results and determining the risk of recurrence in subsequent pregnancies.https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-15238congenital adrenal hyperplasia21-hydroxylase deficiencychildrenadolescentdiagnosis |
| spellingShingle | Sevinç Odabaşı Güneş Havva Nur Peltek Kendirci Edip Ünal Ayşe Derya Buluş İsmail Dündar Zeynep Şıklar Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency JCRPE congenital adrenal hyperplasia 21-hydroxylase deficiency children adolescent diagnosis |
| title | Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency |
| title_full | Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency |
| title_fullStr | Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency |
| title_full_unstemmed | Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency |
| title_short | Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency |
| title_sort | clinical biochemical and molecular characteristics of congenital adrenal hyperplasia due to 21 hydroxylase deficiency |
| topic | congenital adrenal hyperplasia 21-hydroxylase deficiency children adolescent diagnosis |
| url | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-15238 |
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