Clinical Update on Congenital Adrenal Hyperplasia: Recommendations from a Multidisciplinary Adrenal Program
Congenital adrenal hyperplasia (CAH) is a common genetic disorder in endocrinology, especially its milder clinical presentation, often caused by a partial or total deficiency of the 21-hydroxylase enzyme located in the adrenal cortex. CAH is characterized by the overproduction of androgen, along wit...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-04-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/12/9/3128 |
| _version_ | 1797602305957167104 |
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| author | Thomas Uslar Roberto Olmos Alejandro Martínez-Aguayo René Baudrand |
| author_facet | Thomas Uslar Roberto Olmos Alejandro Martínez-Aguayo René Baudrand |
| author_sort | Thomas Uslar |
| collection | DOAJ |
| description | Congenital adrenal hyperplasia (CAH) is a common genetic disorder in endocrinology, especially its milder clinical presentation, often caused by a partial or total deficiency of the 21-hydroxylase enzyme located in the adrenal cortex. CAH is characterized by the overproduction of androgen, along with variable degrees of cortisol and aldosterone deficiency. The age at diagnosis can provide some information about underlying mutations, with those diagnosed at birth/early infancy more likely to have severe enzymatic defects, which may include adrenal insufficiency, sexual development disorders, short stature in adulthood, hirsutism, and a higher risk for metabolic syndrome and infertility. Non-classic CAH, a milder form of CAH, is usually manifested later in life and is a common differential diagnosis of Polycystic Ovary Syndrome and should be actively evaluated during initial studies of clinical or biochemical hyperandrogenism. The main goals of CAH treatment are hormone supplementation for severe cases, controlling adrenal androgen overproduction to minimize long-term side effects, managing fertility and genetic counseling, and optimizing patients’ quality of life. |
| first_indexed | 2024-03-11T04:15:13Z |
| format | Article |
| id | doaj.art-6c1053304e804a0d9c91237b01c376c9 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-11T04:15:13Z |
| publishDate | 2023-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-6c1053304e804a0d9c91237b01c376c92023-11-17T23:11:06ZengMDPI AGJournal of Clinical Medicine2077-03832023-04-01129312810.3390/jcm12093128Clinical Update on Congenital Adrenal Hyperplasia: Recommendations from a Multidisciplinary Adrenal ProgramThomas Uslar0Roberto Olmos1Alejandro Martínez-Aguayo2René Baudrand3Program for Adrenal Disorders CETREN-UC, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362, Santiago 8330077, ChileProgram for Adrenal Disorders CETREN-UC, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362, Santiago 8330077, ChileProgram for Adrenal Disorders CETREN-UC, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362, Santiago 8330077, ChileProgram for Adrenal Disorders CETREN-UC, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362, Santiago 8330077, ChileCongenital adrenal hyperplasia (CAH) is a common genetic disorder in endocrinology, especially its milder clinical presentation, often caused by a partial or total deficiency of the 21-hydroxylase enzyme located in the adrenal cortex. CAH is characterized by the overproduction of androgen, along with variable degrees of cortisol and aldosterone deficiency. The age at diagnosis can provide some information about underlying mutations, with those diagnosed at birth/early infancy more likely to have severe enzymatic defects, which may include adrenal insufficiency, sexual development disorders, short stature in adulthood, hirsutism, and a higher risk for metabolic syndrome and infertility. Non-classic CAH, a milder form of CAH, is usually manifested later in life and is a common differential diagnosis of Polycystic Ovary Syndrome and should be actively evaluated during initial studies of clinical or biochemical hyperandrogenism. The main goals of CAH treatment are hormone supplementation for severe cases, controlling adrenal androgen overproduction to minimize long-term side effects, managing fertility and genetic counseling, and optimizing patients’ quality of life.https://www.mdpi.com/2077-0383/12/9/3128congenital adrenal hyperplasianon-classic CAHhyperandrogenismrecessive genetic disorder |
| spellingShingle | Thomas Uslar Roberto Olmos Alejandro Martínez-Aguayo René Baudrand Clinical Update on Congenital Adrenal Hyperplasia: Recommendations from a Multidisciplinary Adrenal Program Journal of Clinical Medicine congenital adrenal hyperplasia non-classic CAH hyperandrogenism recessive genetic disorder |
| title | Clinical Update on Congenital Adrenal Hyperplasia: Recommendations from a Multidisciplinary Adrenal Program |
| title_full | Clinical Update on Congenital Adrenal Hyperplasia: Recommendations from a Multidisciplinary Adrenal Program |
| title_fullStr | Clinical Update on Congenital Adrenal Hyperplasia: Recommendations from a Multidisciplinary Adrenal Program |
| title_full_unstemmed | Clinical Update on Congenital Adrenal Hyperplasia: Recommendations from a Multidisciplinary Adrenal Program |
| title_short | Clinical Update on Congenital Adrenal Hyperplasia: Recommendations from a Multidisciplinary Adrenal Program |
| title_sort | clinical update on congenital adrenal hyperplasia recommendations from a multidisciplinary adrenal program |
| topic | congenital adrenal hyperplasia non-classic CAH hyperandrogenism recessive genetic disorder |
| url | https://www.mdpi.com/2077-0383/12/9/3128 |
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