Introduction: Congenital Adrenal Hyperplasia (CAH) is classified into salt-wasting (SW), simple virilising (SV) CAH and Non Classic Congenital Adrenal Hyperplasia (NC-CAH). This disease can present with autoimmunity disorders but very little has been reported. We reported a girl with NC-CAH who presented with a life-threatening condition. She was recovered well after proper diagnosis and therapy. Case: A 14 year old girl came with chest pain and shortness of breath revealed a severe pericardial effusion and impending cardiac tamponade. Further evaluation showed acute malar rash, non scaring alopecia, proteinuria > 0.5 gram/24 hours and hemolytic anemia. Laboratory confirmation showed ANA (IF) pattern: speckled with titer 1:100, ANA Profile revealed Sm (Sm) antigen (+) and Jo-1 (Jo) antigen (+++), C3 84.2 mg/dL and anti-dsDNA < 10 IU /mL. She was fulfilled Systemic Lupus International Collaborating Clinics (SLICC) 2015 and European League Againts Rheumatism (EULAR) 2019 criteria for Systemic Lupus Erythematosus (SLE). At the same time, we also noticed about the excessive terminal hair (hirsutism) on the sideburns, upper lips, chin, chest, midline stomach, pubic, hands and legs on her. Further investigation was done to rule out the caused of hirsutism and masculinization. Investigation of testosterone was high 1.202 ng/dL, 17-OH progesterone 63.87 ng/mL, LH < 0.1 mIU/mL, FSH < 0.1 mIU/mL and estradiol 76 pg/mL. These revealed she suffered from NC-CAH. After treatment with pericardiostomy, high dose of methylprednisolone, cyclopohosphamide and hidrocortisone, she recovered completely. Conclusion: Hirsutism is one of the symptoms of late-onset NC-CAH. Children with NC-CAH are at risk of developing autoimmune disorders because the genetic defect that occurs is in a highly active in the immune system.
| Published in | American Journal of Pediatrics (Volume 8, Issue 4) |
| DOI | 10.11648/j.ajp.20220804.12 |
| Page(s) | 201-206 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2024. Published by Science Publishing Group |
Hirsutism, Non Classic Congenital Adrenal Hyperplasia (NC-CAH), Systemic Lupus Erythematosus (SLE)
| [1] | El-Maouche D, Arlt W, Merke DP. Congenital adrenal hyperplasia. The lancet. 2017 May 30; 6736 (17): 1-9. doi: https://doi.org/10.1016/s0140-6736(17)31431-9 |
| [2] | Suminska M, Bogusz-Gorna K, Wegner D, Fichna M. Non-classic disorder of adrenal steroidogenesis and clinical dilemmas in 21-hydroxylase deficiency combined with backdoor androgen pathway. Mini-review and case report. Int. J. Mol. Sci. 2020 June; 21 (4622): 1-16. doi: https://doi.org/10.3390/ijms21134622 |
| [3] | Nordenström A, Falhammar H. Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency. Review. European Journal of Endocrinology. 2019; 180: R127-R145. doi: https://doi.org/10.1530/eje-18-0712 |
| [4] | Witchel FS. congenital adrenal hyperplasia. Journal of Pediatric and Adolescent Gynecology. 2017.04.001. doi: https://doi.org/10.1016/j.jpag.2017.04.001 |
| [5] | Gitelman MK, Lane C. Systemic lupus erythematosus. In: Petty RE, Laxer RM, Lindsley CB, Wedderburn LR, editors. Pediatric Rheumatology. 7th ed. Beijing: Elsevier; 2011. p. 285-316. |
| [6] | Rebecca ES, Stacy PA, Laura ES, Systemic lupus erythematosus. In: Kliegman RM, Bonita FS, Joseph WS, Nina FS, editors. Nelson Textbook of Pediatrics. 20nd ed. Philadelphia: Elsevier; 2016. p. 1176-80. |
| [7] | Falhammar H, Frisen L, Hirschberg AL, Nordenskjold A, Almqvist C, Nordenstrom A. Increased Risk of Autoimmune Disorders in 21-Hydroxylase Deficiency: A Swedish Population-Based national Cohort Study. 2019; 3 (5): 1039-1052. doi: https://doi.org/10.1210/js.2019-00122 |
| [8] | Ferreira MJS. Quality of Life in Children Diagnosed with Non-Classic Congenital Adrenal Hyperplasia. Clin Pediatr. 2021 March; 6 (179): 1-6. doi: https://doi.org/10.7759/cureus.18937 |
| [9] | Das JC, Khanam M, Islam R. Congenital Adrenal Hyperplasia: A Case Report. JCMCTA. 2013; 24 (2): 44-47 |
| [10] | Livadas S, Bothou C. Management of the Female With Non-classical Congenital Adrenal Hyperplasia (NCCAH): A patient-Oriented Approach. Front. Endocrinol. 2019; 10 (366): 1- 11. doi: https://doi.org/10.3389/fendo.2019.00366 |
| [11] | Rosenfield RL. Hirsutism. N Engl J Med. 2005; 353: 2578-2588. doi: https://doi.org/10.1056/nejmcp033496 |
| [12] | Fava A, Petri M. Systemic lupus erythematosus: diagnosis and clinical management. J Autoimmun. 2019; 96: 1-13. doi: https://doi.org/10.1016/j.jaut.2018.11.001 |
| [13] | Bertsias G, Cervera R, Boumpas DT. Systemic lupus erythematosus: pathogenesis and clinical features. In: Bertsias G, Cervera R, Boumpas DT, editors. Eular Textbook on Rheumatic Diseases. 1st ed. London: Elsevier; 2010. p. 476-505. |
| [14] | Chiewchengchol D, Murphy R, Edwards SW, Beresford MW. Mucocutaneous manifestations in juvenile-onset systemic lupus erythematosus: a review of literature. Pediatr Rheumatol 2015; 13: 1-9. doi: https://doi.org/10.1186/1546-0096-13-1. |
| [15] | Ambrose N, Morgan T, Galloway J, Lonnoau Y, Beresford M, Isenberg D. Differences in disease phenotype and severity in SLE across age groups. Lupus Sci Med. 2016; 25: 1542-50. doi: https://doi.org/10.1177/0961203316644333 |
| [16] | Abari IS. 2015 ACR/SLICC revised criteria for diagnosis of systemic lupus erythematosus. Autoimmune Dis Ther Approaches. 2015; 2: 1. doi: http://dx.doi.org/10.14437/ADTAOA-2-114 |
| [17] | Kasjmir YI, Handono K, Wijaya LK, Hamijoyo L, Albar Z, Kalim H, et al. Diagnosis dan Pengelolaan Lupus Eritematosus Sistemik. 1st ed. Jakarta: Perhimpunan Reumatologi Indonesia; 2011. p. 8-9. |
| [18] | Aringer M, Costenbader K, Daikh D, Brinks R, Mosca M, Ramsey-Goldman R, et al. 2019 European League Againts Rheumatism/American College of Rheumatology Classification Criteria for Systemic Lupus Erythematosus. Arthritis & Rheumatology. 2019; 0 (0): 1-13. doi: https://doi.org/10.1136/annrheumdis-2018-214819. |
APA Style
Maria Angela Yustina Fernandez, I Made Arimbawa, I Made Darma Yuda, Ketut Dewi Kumara Wati. (2022). A Rare Case of Non Classic Congenital Adrenal Hyperplasia with Systemic Lupus Erythematosus in a 14-year-old Girl. American Journal of Pediatrics, 8(4), 201-206. https://doi.org/10.11648/j.ajp.20220804.12
ACS Style
Maria Angela Yustina Fernandez; I Made Arimbawa; I Made Darma Yuda; Ketut Dewi Kumara Wati. A Rare Case of Non Classic Congenital Adrenal Hyperplasia with Systemic Lupus Erythematosus in a 14-year-old Girl. Am. J. Pediatr. 2022, 8(4), 201-206. doi: 10.11648/j.ajp.20220804.12
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Download@article{10.11648/j.ajp.20220804.12,
author = {Maria Angela Yustina Fernandez and I Made Arimbawa and I Made Darma Yuda and Ketut Dewi Kumara Wati},
title = {A Rare Case of Non Classic Congenital Adrenal Hyperplasia with Systemic Lupus Erythematosus in a 14-year-old Girl},
journal = {American Journal of Pediatrics},
volume = {8},
number = {4},
pages = {201-206},
doi = {10.11648/j.ajp.20220804.12},
url = {https://doi.org/10.11648/j.ajp.20220804.12},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20220804.12},
abstract = {Introduction: Congenital Adrenal Hyperplasia (CAH) is classified into salt-wasting (SW), simple virilising (SV) CAH and Non Classic Congenital Adrenal Hyperplasia (NC-CAH). This disease can present with autoimmunity disorders but very little has been reported. We reported a girl with NC-CAH who presented with a life-threatening condition. She was recovered well after proper diagnosis and therapy. Case: A 14 year old girl came with chest pain and shortness of breath revealed a severe pericardial effusion and impending cardiac tamponade. Further evaluation showed acute malar rash, non scaring alopecia, proteinuria > 0.5 gram/24 hours and hemolytic anemia. Laboratory confirmation showed ANA (IF) pattern: speckled with titer 1:100, ANA Profile revealed Sm (Sm) antigen (+) and Jo-1 (Jo) antigen (+++), C3 84.2 mg/dL and anti-dsDNA Conclusion: Hirsutism is one of the symptoms of late-onset NC-CAH. Children with NC-CAH are at risk of developing autoimmune disorders because the genetic defect that occurs is in a highly active in the immune system.},
year = {2022}
}
TY - JOUR T1 - A Rare Case of Non Classic Congenital Adrenal Hyperplasia with Systemic Lupus Erythematosus in a 14-year-old Girl AU - Maria Angela Yustina Fernandez AU - I Made Arimbawa AU - I Made Darma Yuda AU - Ketut Dewi Kumara Wati Y1 - 2022/10/18 PY - 2022 N1 - https://doi.org/10.11648/j.ajp.20220804.12 DO - 10.11648/j.ajp.20220804.12 T2 - American Journal of Pediatrics JF - American Journal of Pediatrics JO - American Journal of Pediatrics SP - 201 EP - 206 PB - Science Publishing Group SN - 2472-0909 UR - https://doi.org/10.11648/j.ajp.20220804.12 AB - Introduction: Congenital Adrenal Hyperplasia (CAH) is classified into salt-wasting (SW), simple virilising (SV) CAH and Non Classic Congenital Adrenal Hyperplasia (NC-CAH). This disease can present with autoimmunity disorders but very little has been reported. We reported a girl with NC-CAH who presented with a life-threatening condition. She was recovered well after proper diagnosis and therapy. Case: A 14 year old girl came with chest pain and shortness of breath revealed a severe pericardial effusion and impending cardiac tamponade. Further evaluation showed acute malar rash, non scaring alopecia, proteinuria > 0.5 gram/24 hours and hemolytic anemia. Laboratory confirmation showed ANA (IF) pattern: speckled with titer 1:100, ANA Profile revealed Sm (Sm) antigen (+) and Jo-1 (Jo) antigen (+++), C3 84.2 mg/dL and anti-dsDNA Conclusion: Hirsutism is one of the symptoms of late-onset NC-CAH. Children with NC-CAH are at risk of developing autoimmune disorders because the genetic defect that occurs is in a highly active in the immune system. VL - 8 IS - 4 ER -
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