CLINICAL ASPECTS OF CONGENITAL ADRENAL HYPERPLASIA DUE TO  21-HYDROXYLASE DEFICIENCY

Rimma B  BAZARBEKOVA; Tamara U  ERMAKHANOVA; Oral Y  ONLASSYNOVA; Ayaulym M  ALPAN; Aluash N  SATYBALDINA; Ardak A  ORAZBAY; Malika B  AKHMEROVA; Aikerim I  SLAMOVA; Zaure Zh  MUSSAKHANOVA

doi:10.31082/1728-452X-2020-213-214-3-4-26-32

Authors

Rimma B BAZARBEKOVA Kazakh Medical University of Continuing Education
Tamara U ERMAKHANOVA Kazakh Medical University of Continuing Education
Oral Y ONLASSYNOVA Children's City Clinical Hospital №2,
Ayaulym M ALPAN Kazakh Medical University of Continuing Education
Aluash N SATYBALDINA Kazakh Medical University of Continuing Education
Ardak A ORAZBAY Kazakh Medical University of Continuing Education
Malika B AKHMEROVA Kazakh Medical University of Continuing Education
Aikerim I SLAMOVA Kazakh Medical University of Continuing Education
Zaure Zh MUSSAKHANOVA Kazakh Medical University of Continuing Education

DOI:

https://doi.org/10.31082/1728-452X-2020-213-214-3-4-26-32

Keywords:

congenital adrenal hyperplasia, 21-hydroxylase deficiency, salt-wasting form, simple virilizing form

Abstract

21-hydroxylase deficiency is the cause of one of the most common hereditary diseases - congenital adrenal hyperplasia (CAH). The level of residual activity of 21-hydroxylase determines the clinical form and severity of the course of the disease.
The article presents the clinical characteristics of two forms of CAH – salt-wasting and simple virilizing.
Objective. To study the clinical aspects of CAH due to 21-hydroxylase deficiency in children.
Material and methods. We analyzed 57 archived case histories and 58 extracts from case histories of children from 0 to 18 years old with an established diagnosis of CAH. In general, the sample comprised cases, of which 36 were boys (48%) and 39 (52%) girls.
Results and discussion. Of the 75 children with CAH, 43 (57.3%) had a salt-wasting form, 32 (42.7%) had a simple virilizing form. In children with salt-wasting form, the leading clinical manifestation was salt loss syndrome, with simple virilizing - viril syndrome.
The average age of diagnosis with salt-wasting form was 1.5 months (from 1 to 2.6 months), with simple virilizing - 3 years (from 1.4 to 4.4 years).
Conclusions. According to our data, in Kazakhstan, the salt- wasting form of СAH is diagnosed more often than a simple virilizing form (57.3% / 42.7%). The problems of timely diagnosis of CAH and in the selection of the appropriate passport gender of the child were identified.

References

Kareva MA, Chugunov IS. Federal clinical guidelines - protocols for the management of patients with congenital dysfunction of the adrenal cortex in childhood. Problemy endokrinologii = Problems of Endocrinology. 2014; 4:42-50. DOI: 10.14341/probl201460242-50 (In Russ.)

Merke DP, Poppas DP. Management of adolescents with congenital adrenal hyperplasia. Lancet Diabetes Endocrinol. 2013;1(4):341–352. DOI: 10.1016/S2213-8587(13)70138-4

Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, Meyer-Bahlburg HL, Miller WL, Murad MH, Oberfield SE, White PC. Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline, 2018. J Clin Endocrinol Metab. 2018;103(11):1–46. DOI: 10.1210/jc.2018-01865

Rakhimkulova AA, Akhmetova VL, Malievsky OA, Khusnidtinova EK. Congenital adrenal cortical dysfunction: a search for mutations in the CYP21A2 gene. Vestnik Bashkirskogo uviversiteta = Bulletin of the University of Bashkir. 2013;4:1039-41 (In Russ.)

Huynh T, McGown I, Cowley D, Nyunt O, et al. The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency. Clin Biochem Rev. 2009;30(2):75-86. PMID: 19565027

Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC. Endocrine Society. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metabol. 2010;95 (9):4133-4160. DOI: 10.1210/jc.2009-2631

White PC. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocrine reviews. 2000; 21(3):245-91. DOI: 10.1210/edrv.21.3.0398

White PC. Ontogeny of adrenal steroid biosynthesis: why girls will be girls. J Clin Invest. 2006;116(4):872-74. DOI: 10.1172/JCI28296

Demirci C. Congenital adrenal hyperplasia. Dermatologie therapy. 2008;21(5):340-53. DOI: 10.1111/j.1529-8019.2008.00216.x

Falhammar H, Thoren M. Clinical outcomes in the management of congenital adrenal hyperplasia. Endocrine. 2012;41 (3):355-73. DOI: 10.1007/s12020-011-9591-x

Gozzi TG, Harris NP, McGown IN, Cowley DM, et al. Autopsy diagnosis of 21-hydroxylase deficiency CAH in a case of apparent SIDS. Pediatric and Developmental Pathology. 2005;8 (3):397-401. DOI: 10.1007/s10024-005-0004-0

Doleschall M, Тorok D, Meszaros K, Luczay A, Halasz Z, Nemeth K, Szucs N, Kiss R, Toke J, Solyom J, Fekete G, Patocs A, Igaz P, Tohth M. Steroid 21-hydroxylase deficiency the most frequent cause of congenital adrenal hyperplasia. Orv Hetil. 2018;159(7):269–77.DOI: 10.1556/650.2018.30986

Trappa CM, Speiser PW, Oberfield SE. Congenital adrenal hyperplasia: an update in children. Current Opinion in Endocrinology, Diabetes & Obesity. 2011;18:166–70. DOI: 10.1097/MED.0b013e

c

Dumic K, Krnic N, Skrabic V, Stipancic G, Cvijovic K, Kusec V, Stingl K. Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia between 1995 and 2006. Horm Res. 2009;72(5):310–14. DOI: 10.1159/000245933

Hird BE, Tetlow L, Tobi S, Patel L, Clayton PE. No evidence of an increase in early infant mortality from congenital adrenal hyperplasia in the absence of screening. Arch Dis Child. 2014;99(2):

–64. DOI: 10.1136/archdischild-2013-304473

Lebovitz RM, Pauli RM, Laxova R. Delayed diagnosis in congenital adrenal hyperplasia. Need for newborn screening. Am J Dis Child. 1984;138(6):571–73. DOI: 10.1001/archpedi.1984.02140440055014.

Nordenstr ¨om A, Ahmed S, Jones J, Coleman M, Price DA, Clayton PE, Hall CM. Female preponderance in congenital adrenal hyperplasia due to CYP21 deficiency in England: implications for neonatal screening. Horm Res. 2005;63(1):22–28. DOI: 10.1159/

Thompson R, Seargeant L, Winter JS. Screening for congenital adrenal hyperplasia: distribution of 17a-hydroxyprogesterone concentrations in neonatal blood spot specimens. J Pediatr. 1989;114(3):400–404. DOI: 10.1016/s0022-3476(89)80557-8

Gidlo FS, Falhammar H, Thile´n A, von Do¨ beln U, Ritze´n M, Wedell A, Nordenstro¨m A. One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study. Lancet Diabetes Endocrinol. 2013;1(1):35–42. DOI: 10.1016/S2213-8587(13)70007-X

Watson MS, Mann MY, Lloyd-Puryear MA, Rinaldo P, Howell RR, eds. Newborn screening: toward a uniform screening panel and system. Pediatrics. 2006;117 (5):S296–S307. DOI:10.1542/peds.2005-2633I

Grosse SD, Van Vliet G. How many deaths can be prevented by newborn screening for congenital adrenal hyperplasia? Horm Res. 2007;67(6):284–91. DOI: 10.1159/000098400