Report an error   


Submitted: 22 January 2019 Modified: 23 January 2019
HERDIN Record #: NCR-JAFES-19012215571767

Phenotypic variation of 46,XX late identified Congenital Adrenal Hyperplasia among Indonesians.

See More

Objective. To describe the phenotype variation in Indonesian 46,XX late-identified congenital adrenal hyperplasia (CAH) and the correlation between 17-hydroxyprogesterone (17-OHP) and genital virilization.


Methodology. Retrospective study of 39 cases with five salt-wasting (SW) and 34 simple virilizing (SV) types.


Results. The median age of the patients was 9.83 years (range, 0.58 to 44 years) with Prader score 2 to 5. Clitoromegaly (100%) and skin hyperpigmentation (87%) were the most common features. Lack of breast development (Tanner 1 to 2) and menstrual disorders occurred in 9 patients (teenagers and adults). Short stature (6), low voice (14), prominent Adam's apple (9) and hirsutism (4) were found only in SV types. Rapid growth (7) and precocious puberty (8) were identified in children. Male gender on admission was found in 13 patients. The mean of 17-OHP level was 304.23 nmol/L [standard deviation (SD) 125.03 nmol/L]. There was no correlation between 17-OHP levels and virilization (r=0.19, p>0.05).


Conclusion. Late-identified CAH showed severe virilization and irreversible sequelae, with clitoromegaly and skin hyperpigmentation as the most commonly seen features. Masculinization of CAH females created uncertainty with regard to sex assignment at birth, resulting in female, male and undecided genders. There is no significant correlation between 17-OHP levels with the degree of virilization in CAH females.

Publication Type
Journal
Publication Sub Type
Journal Article, Original
Title
Journal of the ASEAN Federation of Endocrine Societies
Frequency
Semi-Annual
Publication Date
May-October 2018
Volume
33
Issue
1
Page(s)
6-11
LocationLocation CodeAvailable FormatAvailability
Journal of the ASEAN Federation of Endocrine Societies Fulltext External Link (View)
1. Ekenze, SO , Nwangwu, El , Amah, CC , Agugua-Obianyo, NE , Onuh, AC , Ajuzieogu, OV . "Disorders of sex development in a developing country: Perspectives and outcome of surgical management of 39 cases" Pediatr Surg Int 31(1): 93-9, 2015-2015. Retrieved from: http://https://www.ncbi.nlm.nih.gov/pubmed/25326123
2. Speiser, PW , White , PC . "Congenital adrenal hyperplasia" N Engl J Med 349(8): 776-88, 2003-2003. Retrieved from: http://https://www.ncbi.nlm.nih.gov/pubmed/12930931
3. Mooij, CF , van Herwaarden, AE . "Disorders of adrenal steroidogenesis: Impact on gonadal function and sex development" Pediatr Endocrinol Rev 14(2): 109-28, 2016-2016. Retrieved from: http://https://www.ncbi.nlm.nih.gov/pubmed/28508605
4. Auchus, RJ . "The classic and nonclassic congenital adrenal hyperplasias" Endocr Pract 21(4): 383-9, 2015-2015
5. Sugiyama , Y , Mizuno, H , Hayashi, Y . " Severity of virilization of external genitalia in Japanese patients with salt-wasting 21-hydroxylase deficiency" Tohoku J Exp Med 215(4): 341-8, 2008-2008. Retrieved from: http://https://www.ncbi.nlm.nih.gov/pubmed/18679008
6. van der Kamp, HJ , Wit, JM . "Neonatal screening for congenital adrenal hyperplasia" Eur J Endocrinol 151(Suppl 3): U71-5, 2004-2004. Retrieved from: http://https://www.ncbi.nlm.nih.gov/pubmed/15554889
7. Trapp, CM , Oberfield, SE . "Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): An update" Steroids 77(4): 342-6, 2012-2012. Retrieved from: http://https://www.ncbi.nlm.nih.gov/pubmed/22186144
8. Juniarto, AZ , van der Zwan, YG , Santosa, A . "Application of the new classification on patients with a disorder of sex development in Indonesia" International Journal of Pediatric Endocrinology 2012, 237084, 2012-2012. Retrieved from: http://https://www.ncbi.nlm.nih.gov/pubmed/22253624
9. Ediati, A , Faradz, SM , Juniarto, AZ , van der Ende, J , Drop, SL , Dessens, AB . "Emotional and behavioral problems in late-¬identified Indonesian patients with disorders of sex development" J Psychosom Res 79(1): 76-84, 2015-2015. Retrieved from: http://https://www.ncbi.nlm.nih.gov/pubmed/25563666
10. Chang, KSF , Lee, MMC , Low, WD . "Standards of height and weight of Southern Chinese Children" Far East Med J 1, 101-9, 1965-1965
11. Juniarto, AZ , van der Zwan, YG , Santosa, A . "Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia" Clin Endocrinol (Oxf 85(2): 247-57, 2016-2016. Retrieved from: http://https://www.ncbi.nlm.nih.gov/pubmed/26935236
12. Dörr, HG , Odenwald, B , Nennstiel-Ratzel, U . "Early diagnosis of children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency by newborn screening" Int J Neonatal Screen 1, 36-44, 2015-2015. Retrieved from: http://https://www.mdpi.com/2409-515X/1/1/36
13. Knowles, RL , Khalid, JM , Oerton, JM , Hindmarsh, PC , Kelnar, CJ , Dezateux, C . "Late clinical presentation of congenital adrenal hyperplasia in older children: Findings from nationalpaediatric surveillance" Arch Dis Child 99(1): 3-04, 2014-2014. Retrieved from: http://https://www.ncbi.nlm.nih.gov/pubmed/24043550
14. Ambroziak, U , Bednarczuk, T , Ginalska-Malinowska, M . "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency - management in adults" Endokrynol Pol 61(1): 142-55, 2010-2010
15. Kulshreshtha, B , Eunice, M , Ammini, AC . "Pubertal development among girls with classical congenital adrenal hyperplasia initiated on treatment at different ages" Indian J Endocrinol Metab 16(4): 599-603, 2012-2012. Retrieved from: http://https://www.ncbi.nlm.nih.gov/pubmed/22837923
16. Sahakitrungruang, T . "Clinical and molecular review of atypical congenital adrenal hyperplasia" Ann Pediatr Endocrinol Metab 20(1): 1-7, 2015-2015. Retrieved from: http://https://www.ncbi.nlm.nih.gov/pubmed/25883920
17. Moshiri, M , Chapman, T , Fechner, PY . "Evaluation and management of disorders of sex development: Multidisciplinary approach to a complex diagnosis" Radiographics 32(6): 1599-618, 2012-2012. Retrieved from: http://https://www.ncbi.nlm.nih.gov/pubmed/23065160
18. Bonfig, W , Schwarz, HP . "Growth pattern of untreated boys with simple virilizing congenital adrenal hyperplasia indicates relative androgen insensitivity during the first six months of life" Horm Res Paediatr 75(4): 264-8, 2011-2011. Retrieved from: http://https://www.ncbi.nlm.nih.gov/pubmed/21196707
19. Hargitai , B , Solyom, J , Battelino, T . "Growth patterns and final height in congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency. Results of a multicenter Study" Horm Res 55(4): 161-71, 2001-2001. Retrieved from: http://https://www.ncbi.nlm.nih.gov/pubmed/11598369
20. Rocha , TO , Billerbeck, AE , Pinto, EM . "The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene" Clin Endocrinol (Oxf) 68(2): 226-32, 2008-2008. Retrieved from: http://https://www.ncbi.nlm.nih.gov/pubmed/17803691
21. Warne, GL , Raza, J . "Disorders of sex development (DSDs), their presentation and management in different cultures" Rev Endocr Metab Disord 9(3): 227-36, 2008-2008. Retrieved from: http://https://www.ncbi.nlm.nih.gov/pubmed/18633712

Copyright © One Window Project 2018. All rights reserved.