ESPEYB20 11. Global Health for the Paediatric Endocrinologist Endocrinology (6 abstracts)
11.15. Genotype, mortality, morbidity, and outcomes of 3[beta]-hydroxysteroid dehydrogenase deficiency in Algeria
Ladjouze A , Donaldson M , Plotton I , Djenane N , Mohammedi K , Tardy-Guidollet V , Mallet D , Boulesnane K , Bouzerar Z , Morel Y & Roucher-Boulez F
Department of Paediatrics, Centre Hospitalo-Universitaire Bab El Oued, Algiers, Algeria. a.ladjouze@univ-alger.dz Front Endocrinol (Lausanne) 2022 Jun 10;13:867073. DOI: 10.3389/fendo.2022.867073
Brief summary: This study describes the genetic and clinical characteristics of 3βHSD2 deficiency in children seen at a single center in Algeria. It describes clinical outcomes, including the frequency of adrenal rest tumors in this population.
3β-hydroxysteroid dehydrogenase 2 deficiency (3βHSD2) is a rare form of congenital adrenal hyperplasia. This mixed longitudinal and cross-sectional study was performed in a single Algerian center between 2007 and 2021, and characterized 14 cases (6 males, 8 females) from 10 families. Consanguinity was present in eight families. All patients presented with severe salt-wasting during infancy, except for two who were diagnosed by family screening. While associated with a disorder of sex development (DSD) in all male patients, this was not the principal reason for referral. Females were often misdiagnosed as having 21-hydroxylase deficiency and therefore were managed inappropriately based on 17OHP levels. Genetic analysis of this cohort identified the p.Pro222Gln null mutation in 12 of the 14 patients. The remaining two patients (sisters) were homozygous for a novel 12bp deletion (c453-464del). All patients were treated with hydrocortisone (mean dose 15.2 mg/m2/day), but not all patients regularly received fludrocortisone as it was not reliably available. Premature pubarche was noted in the majority of patients, both male and female. Four girls reached menarche during the study period, but three had oligomenorrhea and met criteria for PCOS. Two males were diagnosed with testicular adrenal rest tumor by ultrasound at 5 and 10 years of age, presumably due to inadequate treatment. Adrenal tumors were found in two female patients, both initially thought to have 21-hydroxylase deficiency and therefore likely inadequately treated.
Based on patients seen for CAH at this site, 3bHSD2 deficiency appears more prevalent in Algeria than elsewhere and with high mortality and significant morbidity. Lack of appropriate diagnosis and resulting inappropriate monitoring, as well as poor access to treatment with fludrocortisone result in significant issues in disease management.
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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