Clinical, biochemical, and biomolecular aspects of congenital adrenal hyperplasia in a group of Cameroonian children and adolescents

Suzanne Sap Ngo Um; Ritha Mbono Betoko; Isabelle Mekone; Adèle Bodieu Chetcha; Veronique Tardy; Sophie Dahoun; Pierre Yves Mure; Ingrid Plotton; Yves Morel; Martine Etoa Etoga; Jocelyn Tony Nengom; Boniface Moifo; Faustin Mouafo Tambo; Eugène Sobngwi; Paul Koki Ndombo

doi:10.1515/jpem-2021-0696

Article

Clinical, biochemical, and biomolecular aspects of congenital adrenal hyperplasia in a group of Cameroonian children and adolescents

Suzanne Sap Ngo Um , Ritha Mbono Betoko , Isabelle Mekone , Adèle Bodieu Chetcha , Veronique Tardy , Sophie Dahoun , Pierre Yves Mure , Ingrid Plotton , Yves Morel , Martine Etoa Etoga , Jocelyn Tony Nengom , Boniface Moifo , Faustin Mouafo Tambo , Eugène Sobngwi and Paul Koki Ndombo

Published/Copyright: May 2, 2022

Published by

Become an author with De Gruyter Brill

Submit Manuscript Author Information Explore this Subject

From the journal Journal of Pediatric Endocrinology and Metabolism Volume 35 Issue 6

Abstract

Objectives

Congenital adrenal hyperplasia (CAH) remains one of the most challenging endocrine disorders to diagnose, manage, and treat, especially in Africa where there is lack of neonatal screening program, and limited access to care. Data on biomolecular anomaly are sparse, therefore type of mutations are unknown, increasing management challenges and genetic counseling. The present study aims to describe clinical, biomolecular aspects of a group of Cameroonian patients.

Methods

We did an observational retrospective study at the pediatric endocrinology unit of the Mother and Child Centre of the Chantal Biya Foundation in Yaounde from May 2013 to December 2019, including all patients diagnosed with CAH.

Results

We consecutively included 31 patients aged less than 21 years, diagnosed CAH. Median age at diagnosis was 1.71 years (IQR 0.08–2.57 years). Abnormal genitalia was the main complain in 48.4%(n=15). The most prevalent genetic anomaly found in our study population (n=24) was on CYP11, found in 16 patients (66.6%) followed by CYP21A2 mutation found in 8 patients. Homozygous mutation of p.Q356X was found in half of patients with 11 hydroxylase deficiency. This mutation was mostly found in people from semi-Bantu tribes, declared non consanguineous.

Conclusions

11 hydroxylase deficiency is the most prevalent form of CAH found in this group of Cameroonian children.

Keywords: CAH; children; sub Saharan Africa

Corresponding author: Suzanne SAP Ngo Um, Faculty of Medicine and Biomedical Sciences of the University of Yaounde I, Mother and Child Centre of Chantal Biya Foundation, Yaoundé, Cameroon, Phone: +237 677594797, E-mail: suzysap@gmail.com

Acknowledgments

Patients and their family in the SUCAM association, nurses of endocrine unit of mother and child center of CBF.

Research funding: None.
Author contribution: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Informed consent: Not applicable. This was a retrospective study.
Ethical approval: The study obtained a clearance approval from the Regional Ethics Committee of Centre Region (Ref N° CE 1842/CRESSHC/2019).

References

1. Speiser, PW Congenital adrenal hyperplasia. F1000Res 2015;4:601.10.12688/f1000research.6543.1Search in Google Scholar

2. Narasimhan, ML, Khattab, A. Genetics of congenital adrenal hyperplasia and genotype-phenotype correlation. Fertil Steril 2019;111:24–9.10.1016/j.fertnstert.2018.11.007Search in Google Scholar

3. Knowles, RL, Khalid, JM, Oerton, JM, Hindmarsh, PC, Kelnar, CJ, Dezateux, C. Late clinical presentation of congenital adrenal hyperplasia in older children: findings from national paediatric surveillance. Arch Dis Child 2014;99:30–4.10.1136/archdischild-2012-303070Search in Google Scholar

4. New, MI, Abraham, M, Gonzalez, B, Dumic, M, Razzaghy-Azar, M, Chitayat, D, et al.. Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Proc Natl Acad Sci U S A 2013;110:2611–6. https://doi.org/10.1073/pnas.1300057110.Search in Google Scholar

5. El-Maouche, D, Arlt, W, Merke, DP. Congenital adrenal hyperplasia. Lancet 2017;390:2194–210.10.1016/S0140-6736(17)31431-9Search in Google Scholar

6. Ameyaw, E, Asafo-Agyei, SB, Hughes, IA, Zacharin, M, Chanoine, JP. Incidence of disorders of sexual development in neonates in Ghana: prospective study. Afr J Urol 2007;14:138–42.10.1136/archdischild-2019-316986Search in Google Scholar PubMed

7. Gidlöf, S, Falhammar, H, Thilén, A, Von Döbeln, U, Ritzén, M, Wedell, A, et al.. One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study. Lancet Diabetes Endocrinol 2013;1:35–42. https://doi.org/10.1016/S2213-8587(13)70007-X.Search in Google Scholar

8. Feldman Witchel, S. Congenital adrenal hyperplasia. J Pediatr Adolesc Gynecol 2017;30:520–34.10.1016/j.jpag.2017.04.001Search in Google Scholar PubMed PubMed Central

9. Speiser, PW. Emerging medical therapies for congenital adrenal hyperplasia. F1000Res 2019;8:363. https://doi.org/10.12688/f1000research.17778.1.Search in Google Scholar PubMed PubMed Central

10. Osifo, OD, Nwashilli, NJ. Congenital adrenal hyperplasia: the challenges of management in a developing country. Arch Dis Child 2019;104:636–8. https://doi.org/10.1136/archdischild-2019-316986.Search in Google Scholar

11. Ganie, Y, Aldous, C, Balakrishna, Y, Wiersma, R. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa. S Afr Med J 2018;108:132–7. https://doi.org/10.7196/SAMJ.2017.v108i2.12579.Search in Google Scholar PubMed

12. Niang, B, Ly, F, Ba, A, Mbaye, A, Boiro, D, Faye, P, et al.. Congenital adrenal hyperplasia: diagnostic features in a limited resource country, Senegal. OJ Ped 2020;10:137–46. https://doi.org/10.4236/ojped.2020.101013.Search in Google Scholar

13. Musa, SA, Hassan, SS, Ahmed, AI, Ngwiri, T, Fadlalbari, GF, Ibrahim, AA, et al.. Clinical profile, etiology, and diagnostic challenges of primary adrenal insufficiency in Sudanese children: 14-years’ experience from a resource limited setting. J Pediatr Endocrinol Metab 2021;35:231–37. https://doi.org/10.1515/jpem-2021-0545.Search in Google Scholar PubMed

14. Sap, SNU, Mbono Betoko, R, Etoa Etoga, M, Mure, PY, Morel, Y, Dahoun, S, et al.. Observational study of disorders of sex development in Yaounde, Cameroon. J Pediatr Endocrinol Metab 2020;33:417–23. https://doi.org/10.1515/jpem-2019-0458.Search in Google Scholar PubMed

15. de Carvalho, DF, Miranda, MC, Gomes, LG, Madureira, G, Marcondes, JA, Billerbeck, AE, et al.. Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction. Eur J Endocrinol 2016;175:107–16. https://doi.org/10.1530/EJE-16-0171.Search in Google Scholar PubMed

16. Riedl, S, Röhl, FW, Bonfig, W, Brämswig, J, Richter-Unruh, A, Fricke-Otto, S, et al.. Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients. Endocr Connect 2019;8:86–94. https://doi.org/10.1530/EC-18-0281.Search in Google Scholar PubMed PubMed Central

17. Khattab, A, Haider, S, Kumar, A, Alam, D, Romero, R, Burns, J, et al.. Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. Proc Natl Acad Sci U S A 2017;114:E1933–40. https://doi.org/10.1073/pnas.1621082114.Search in Google Scholar PubMed PubMed Central

18. Baş, F, Toksoy, G, Ergun-Longmire, B, Uyguner, ZO, Abalı, ZY, Poyrazoğlu, Ş, et al.. Prevalence, clinical characteristics and long-term outcomes of classical 11β hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1B1 gene. J Steroid Biochem Mol Biol 2018;181:88–97. https://doi.org/10.1016/j.jsbmb.2018.04.001.Search in Google Scholar PubMed

Received: 2021-11-19

Revised: 2022-03-21

Accepted: 2022-04-04

Published Online: 2022-05-02

Published in Print: 2022-06-27

You are currently not able to access this content.

Articles in the same Issue

https://doi.org/10.1515/jpem-2021-0696

Keywords for this article

CAH; children; sub Saharan Africa