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MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency
Abstract
Non-classic congenital adrenal hyperplasia (NCAH) is a relatively common disorder regardless of ethnicity, but most cases are never diagnosed, especially in males. A baseline 17-hydroxyprogesterone measurement may be used for screening, but 17-hydroxyprogesterone measurement after ACTH stimulation is the gold standard. We advocate a CYP21A2 mutation analysis to verify the diagnosis, for genetic counselling and for better prognostic and treatment guidance. Most patients are diagnosed in adolescence and adult life with hirsutism, acne, a PCOS-like picture and fertility issues. Many men with NCAH never seek medical attention and escape diagnosis. Although treatment is somewhat controversial, an early diagnosis and start of treatment may have positive implications on growth and be relevant for preventing and ameliorating the symptoms and consequences of androgen excess that develop over time, including fertility issues. Long-term treatment with glucocorticoids will improve the androgen symptoms but may result in long-term complications, such as obesity, insulin resistance, hypertension, osteoporosis and fractures. The glucocorticoid doses should be kept low. However, complications seen in NCAH, assumed to be caused by the glucocorticoid treatment, may also be associated with long-term androgen exposure. Oral contraceptive pills are a common treatment option for young females with NCAH. Regular clinical monitoring to improve the clinical outcome is recommended. It is important to acknowledge that glucocorticoid treatment will lead to secondary cortisol insufficiency and the need for stress dosing. Studies focusing on the specific difficulties patients with NCAH face, both those with a late clinical diagnosis and those with a neonatal diagnosis obtained by screening, are warranted.
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“Children with NC CAH can present with signs of increased adrenal androgen production such as premature pubarche, acne, mild hirsutism and menstrual disturbances that can progress over time (427),”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [427]
In the citing paper
“Typical symptoms in affected women are hirsutism, oligo-and amenorrhea, acne, alopecia and sub-or infertility (427).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [427]
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Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
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Self-citationCongenital adrenal hyperplasia
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“To overcome this disparity, diurnal curves using dried blood spots measuring 17OHP can be used, but such curves are currently only available in a few centers [1, 7].”
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Self-citationBody Image and Quality of Life in Women with Congenital Adrenal Hyperplasia
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InfluentialCharacteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
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BackgroundPrenatal and Pregnancy Management of Congenital Adrenal Hyperplasia
Nowotny, H. F., Tschaidse, L., Auer, M. K., & Reisch, N. (2024) · Clinical Endocrinology · doi:10.1111/cen.15131 · Cited by 11
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“Therefore, it is extremely important to inform the patients and their families about treatment and stress dosing (74).”
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“There are classic forms and non-classic forms, depending upon the degree of enzyme deficiency [96,97].”
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Koren, I., Weintrob, N., Kebesch, R., Majdoub, H., Stein, N., Naor, S., & Segev‐Becker, A. (2023) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgad546 · Cited by 6
Kiewert, C., Jedanowski, J., Hauffa, B. P., Petersenn, S., Mann, K., Führer, D., & Unger, N. (2024) · Hormone and Metabolic Research · doi:10.1055/a-2201-6548 · Cited by 6
Nan, M. N., Roig, R., Martínez, S., Rives, J., Urgell, E., Espinós, J. J., Tirado-Capistros, M., Carreras, G., Aulinas, A., Webb, S. M., et al. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10061183 · Cited by 7
“The NC form presents with premature pubarche, hirsutism, acne, menstrual abnormalities, unfulfilled pregnancy, or no clinical symptoms (cryptic CAH) [3].”
BackgroundCongenital adrenal hyperplasia is a very rare cause of adrenal incidentalomas in Sweden
Sahlander, F., Bensing, S., & Falhammar, H. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.1017303 · Cited by 7
Self-citationZhao, Z., Gao, Y., Lü, L., Tong, A., Chen, S., Zhang, W., Zhang, X., Sun, B., Wu, X., Mao, J., et al. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.1015773 · Cited by 6
Nonclassical congenital adrenal hyperplasia: Metabolic and hormonal profile
Piróg, M. M., Pulka, A., Zabiegło, E., & Jach, R. (2023) · Clinical Endocrinology · doi:10.1111/cen.14988 · Cited by 8
Fertility and pregnancy in adrenal insufficiency
Green, D., Dineen, R., O’Reilly, M., & Sherlock, M. (2023) · Endocrine Connections · doi:10.1530/ec-23-0088 · Cited by 9
Congenital adrenal hyperplasia in adolescence — a gynecological perspective
Oliveira, J. C., Sousa, F. C., Campos, S. T., Geraldes, F. B., Belo, J. L., Leite, M. H., Mirante, M. A., & Águas, M. F. (2022) · Ginekologia Polska · doi:10.5603/gp.a2021.0248 · Cited by 8
First insights into the genetics of 21‐hydroxylase deficiency in the Roma population
Kočova, M., Anastasovska, V., Петличковски, А., & Falhammar, H. (2021) · Clinical Endocrinology · doi:10.1111/cen.14447 · Cited by 6
Self-citationTschaidse, L., Auer, M. K., Dubinski, I., Lottspeich, C., Nowotny, H. F., Schmidt, H., Gut, N., & Reisch, N. (2022) · Journal of Clinical Medicine · doi:10.3390/jcm11154307 · Cited by 5
Strandqvist, A., Asperholm, M., Falhammar, H., Hirschberg, A. L., Nordenström, A., & Herlitz, A. (2025) · Hormones and Behavior · doi:10.1016/j.yhbeh.2025.105748 · Cited by 6
Self-citationAsperholm, M., Strandqvist, A., Falhammar, H., Frankling, K., Åkerlund, I., Laukka, P., Hirschberg, A. L., Nordenström, A., & Herlitz, A. (2025) · Hormones and Behavior · doi:10.1016/j.yhbeh.2025.105747 · Cited by 5
“These women may only seek medical attention when symptoms of androgen excess, such as hirsutism, acne, or problems related to fertility, become apparent (Nordenstr ¨ om and Falhammar, 2019).”
Self-citationThe aetiology of extreme tall stature in a screened Finnish paediatric population
Kärkinen, J., Sorakunnas, E., Miettinen, P. J., Raivio, T., & Hero, M. T. (2021) · EClinicalMedicine · doi:10.1016/j.eclinm.2021.101208 · Cited by 5
Falhammar, H., Hirschberg, A. L., Nordenskjöld, A., Larsson, H., & Nordenström, A. (2023) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgad624 · Cited by 5
Self-citationCardiovascular risk in Cuban adolescents and young adults with congenital adrenal hyperplasia
Reyes, T. M. E., Velepucha, A. K. P., Rego, J. O. C., Gómez, W. V., Alonso, E. D., & Falhammar, H. (2023) · BMC Endocrine Disorders · doi:10.1186/s12902-023-01499-9 · Cited by 5
“It is the most common adrenal disorder in childhood with equal involvement of both sexes and with a very wide spectrum of clinical manifestations [1, 2].”
BackgroundSelf-citationLandscape of Adrenal Tumours in Patients with Congenital Adrenal Hyperplasia
Carşote, M., Gheorghe, A.-M., Nistor, C., Trandafir, A.-I., Sima, O.-C., Cucu, A.-P., Ciuche, A., Petrova, E. N., & Ghemigian, A. M. (2023) · Biomedicines · doi:10.3390/biomedicines11113081 · Cited by 6
Memory in female adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Reyes, T. M. E., Martín, D. C., Álvarez, M. Á., & Falhammar, H. (2024) · Endocrine · doi:10.1007/s12020-024-03806-3 · Cited by 5
Self-citationNakhleh, A., Saiegh, L., Shehadeh, N., Weintrob, N., Sheikh‐Ahmad, M., Supino‐Rosin, L., Alboim, S., Gendelman, R., & Zloczower, M. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.1048663 · Cited by 5
CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica
Umaña-Calderón, A., Acuña-Navas, M. J., Alvarado, D., Jiménez‐Hernández, M., & Aita, F. C. (2021) · Molecular Genetics and Metabolism Reports · doi:10.1016/j.ymgmr.2021.100728 · Cited by 5
“Thus, female patients may develop signs of androgen excess, such as acne, hirsutism, irregular menstrual cycles, and infertility [5,7,8].”
BackgroundMcCann‐Crosby, B., Liang, M. C., Geffner, M. E., Koppin, C. M., Fraga, N. R., Sutton, V. R., Karaviti, L. P., Bhullar, G., & Kim, M. S. (2023) · International Journal of Neonatal Screening · doi:10.3390/ijns9030050 · Cited by 5
“could minimize the adverse effects of hyperandrogenism during childhood [5,6].”
BackgroundPregnancy in Congenital Adrenal Hyperplasia
Reisch, N., & Auchus, R. J. (2024) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2024.05.005 · Cited by 6
Altemimi, M. T., musa, A. K., & Mansour, A. A. (2021) · The Indonesian Biomedical Journal · doi:10.18585/inabj.v13i2.1431 · Cited by 4
Nonclassic Adrenal Hyperplasia (NCAH) due to 21-hydroxylase deficiency: A cohort of 78 patients
Wan, Z., Wang, W., Zheng, S., Han, R., Xie, X., Zhao, Y., Wang, W., Sun, S., & Ye, L. (2022) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/j.jsbmb.2022.106192 · Cited by 4
A Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome – a Case Report
Yordanova, N., Iotova, V., Mackay, D., Temple, I. K., Stoyanova, S., & Hachmeriyan, M. (2023) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.galenos.2022.2022-9-19 · Cited by 4
“Although ACTH stimulation test was not done, the findings were consistent with non-classical congenital adrenal hyperplasia (NCAH).”
InfluentialClinical analysis of 78 patients with nonclassical 21-hydroxylase deficiency
Liu, E., Luo, H., Zhou, K., & Zhang, Y. (2023) · Archives of Gynecology and Obstetrics · doi:10.1007/s00404-023-06946-5 · Cited by 4
Øzdemir, C. M., Nielsen, M. M., Liimatta, J., Voegel, C. D., Elzenaty, R. N., Wasehuus, V. S., Lind‐Holst, M., Ørnstrup, M. J., Gram, S. B., Ousager, L. B., et al. (2024) · Endocrinology Diabetes and Metabolism Case Reports · doi:10.1530/edm-23-0090 · Cited by 4
“Insulin resistance in NCCAH may be due to the underlying steroid disorder (21, 22) or a consequence of the drug therapy with glucorticosteroids (23).”
BackgroundAdrenal adenoma secreting 17-hydroxyprogesterone mimicking non-classical 21-hydroxylase deficiency
Woźniak, B., Leszczyńska, D., Szatko, A., Nowak, K., Samsel, R., Siejka, A., Papierska, L., Zgliczyński, W., Falhammar, H., & Glinicki, P. (2024) · Frontiers in Endocrinology · doi:10.3389/fendo.2024.1499836 · Cited by 5
Self-citationReyes, T. M. E., Mesa, T. C., Cruz, P. A. L., Machado, A. A., Alonso, E. D., & Falhammar, H. (2021) · International Journal of Endocrinology · doi:10.1155/2021/9316284 · Cited by 5
“Most are diagnosed in young adulthood, but many are probably never diagnosed, especially the males [7].”
BackgroundSelf-citationParagliola, R. M., Perrucci, A., Foca, L., Urbani, A., & Concolino, P. (2022) · doi:10.20944/preprints202206.0329.v1 · Cited by 13
Assessing the risk of having a child with classic 21-hydroxylase deficiency: a new paradigm
Ilany, J., & Cohen, O. (2021) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2021.04.007 · Cited by 3
Metadata
- Authors
- Nordenström, A., & Falhammar, H.
- Affiliations
- Karolinska University Hospital (SE)
- Corresponding author
- Nordenström, Anna
- Venue
- European Journal of Endocrinology
- Publisher
- Oxford University Press (OUP)
- Published
- 2019-03
- Volume
- 180
- Issue
- 3
- Pages
- R127-R145
- ISSN
- 0804-4643 (ISSN-L)
- 1479-683X
- OpenAlex
- W2904713638
- Cited by
- 158
- References
- 166
- Citations by year
- 2026: 13 · 2025: 12 · 2024: 22 · 2023: 30 · 2022: 27 · 2021: 25 · 2020: 20 · 2019: 9
- FWCI
- 4.80
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- European Journal of Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Keywords
- non-classical congenital adrenal hyperplasia, 21-hydroxylase deficiency, 17-hydroxyprogesterone, ACTH stimulation test, hirsutism, hyperandrogenism, glucocorticoid therapy, glucocorticoid adverse effects, oral contraceptives, fertility, genetic counseling, screening
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