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), 2022. Published by Science Publishing Group |
Hirsutism, Non Classic Congenital Adrenal Hyperplasia (NC-CAH), Systemic Lupus Erythematosus (SLE)
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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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