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ABSTRACT
Introduction. Hirsutism is defined as excessive male-pattern hair growth in women. In our society the etiology of this clinical situation is currently unspecified. The aim of this study was to determine the frequency of 21-hydroxylase enzyme deficiency in females with hirsutism in Yaoundé. Methodology. We conducted a descriptive and analytical cross-sectional study. Participants were recruited by advertisement. Our study population consisted of women of childbearing age, with hirsutism, non-pregnant and non-breast feeding. After interrogation, we proceeded to physical examination of participants with evaluation of the Ferriman and Gallwey score. We drew blood at the beginning of the follicular phase at T0 and T60 minutes after stimulation with 0.25 mg of tetracosactide or synthetic ACTH. We performed ELISA enzyme immunoassays for 17-hydroxyprogesterone to determine the frequency of 21-hydroxylase deficiency. The threshold for defining this deficit was established at 10 ng/ml of 17-hydroxyprogesterone after stimulation. Results. We recruited 73 women aged 27.4 ± 6.9 years. The mean Ferriman and Gallwey score was 14 ± 4; 67%, 30% and 3% of participants had mild, moderate   and severe hirsutism, respectively. Concerning the hormonal profile, the median serum level of 17-hydroxyprogesterone varied from 2ng/ml(0.3-25ng/ml) before stimulation   to 4.3 ng/ml(1.6-25 ng/ml) after stimulation. The frequency of 21-hydroxylase enzyme deficiency was 3%. There was no significant correlation between severity of hirsutism and enzyme deficiency. Conclusion. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency appears to be a rare etiology in our study. ACTH stimulation test is necessary for diagnosis. Confirmation of the diagnosis can be done with the search for mutations in the CYP21A2 gene if possible.  
RÉSUMÉ
Introduction. L’hirsutisme est le développement chez la femme d’une pilosité excessive de type masculin. Ses données étiologiques ne sont pas élucidées dans notre sociéte. Le but de cette étude était de déterminer la fréquence du déficit enzymatique en 21-hydroxylase dans une population de femmes présentant un hirsutisme à Yaoundé. Méthodologie. Nous avons mené une étude transversale descriptive et analytique. Notre population d’étude était constituée de femmes en âge de procréer, présentant un hirsutisme, non enceintes et non allaitantes, cotées selon le score de Ferriman et Gallwey. Nous avons procédé aux prélèvements sanguins en début de phase folliculaire à T0 et T60 minutes après stimulation à 0.25 mg de tétracosactide (Synacthène), puis réalisé les dosages immuno-enzymatiques ELISA de la 17-hydroxyprogestérone et déterminé la fréquence du déficit en 21-hydroxylase. Le seuil de définition de ce déficit était établi pour une valeur de la 17-hydroxyprogesterone après stimulation supérieure à 10 ng/ml. Résultats. Nous avons recruté 73 femmes âgées de 27.4 ± 6.9 ans. Le score de Ferriman et Gallwey moyen était de 14 ± 4 avec 67% des participantes présentant un hirsutisme léger, 30% un hirsutisme modéré et 3% un hirsutisme sévère. Le taux sérique médian de 17-OHP variait de 1.2ng/ml (0.3-25 ng/ml) avant stimulation, à 4.3 ng/ml (1.6 - 25 ng/ml) après stimulation. La fréquence du déficit enzymatique en 21-hydroxylase était de 3%. Il n’y avait pas de corrélation significative entre la sévérité de l’hirsutisme et le déficit enzymatique. Conclusion. L’hyperplasie congénitale des surrénales due à un déficit en 21-hydroxylase en est une étiologie certes rare, mais présente dans notre contexte. Le test de stimulation à l’ACTH est nécessaire au diagnostic. La confirmation du diagnostic devra être faite si possible avec la recherche des mutations du gene CYP21A2.

Keywords

Hirsutism 21-hydroxylase deficiency 17-hydroxyprogesterone Frequency Yaounde Hirsutisme Déficit en 21-hydroxylase 17-hydoxyprogestérone Fréquence Yaoundé

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Francine Mendane Ekobena, Martine Claude Etoa Etoga, Eva Rita Olobo Bodo, Mesmin Dehayem, Anne Boli, Esther Meka, Vicky Ama Moor, & Eugène Sobngwi. (2023). Frequency of 21-Hydroxylase Enzyme Deficiency in a Female Population with Hirsutism in Yaounde. HEALTH SCIENCES AND DISEASE, 24(4). https://doi.org/10.5281/hsd.v24i4.4357
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