Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family

Elfekih, Hamza; Abdelkrim, A. Ben; Marzouk, H.; Saad, Gamal R.; Gribaa, Moez; Hasni, Y.; Maaroufi, A.

doi:10.11604/pamj.2020.36.226.24270

Cited by 8 publications

(6 citation statements)

References 10 publications

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“…Deficiency in 11-beta-hydroxylase accounts for 0.2-8% of CAH cases [ 9 , 11 ]. This deficit represented 4.8% (n=9) in this study, consistent with literature data [ 11 , 12 ]. Its incidence is estimated at 1/100000 live births in non-consanguineous populations and can be as high as 1/5000 in the Moroccan Jewish population [ 12 ].…”

Section: Discussionsupporting

confidence: 93%

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A Cross-Sectional Study of Congenital Adrenal Hyperplasia

Bouarab,

Yakine,

Bouchra

2024

Cureus

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Introduction and aim: Congenital adrenal hyperplasia is an autosomal recessive disease caused by the deficiency of one of the enzymes of adrenal steroidogenesis, the most common of which is the deficiency of 21-hydroxylases. It represents a significant cause of morbidity and mortality in the pediatric population, especially in the absence of systematic neonatal screening in Morocco, which makes the management of these patients difficult for clinicians. This study aimed to describe the epidemiological, clinical, laboratory, evolutionary, and therapeutic profile of children followed for congenital adrenal hyperplasia at the pediatric endocrinology unit, Abderrahim Harrouchi Children's Hospital, Casablanca, Morocco. Materials and methods: A retrospective cross-sectional study including 184 children followed for congenital adrenal hyperplasia over a period of 11 years (from January 1, 2013, to December 31, 2023). The diagnosis was confirmed by molecular biology, and all clinical, laboratory, and radiological data were collected retrospectively from medical records. Results: The median age at diagnosis was 1.5 months (birth: 13 years). The consanguinity rate was 54.4% (n=100). A history of death in the family was found in 16.3% (n=30) of cases in a table of salt wasting and infections. The classic form was observed in 72% (n=132) of children compared to 28.3% (n=52) for the non-classical form. The virilizing form with salt wasting and the pure virilizing form represented 45.6% (n=84) and 26% (n=48) of cases, respectively. Deficiency in 21-hydroxylase was found in 91.8% (n=169) of children, while deficiency in 11-β-hydroxylase was identified in 4.9% (n=9) of cases, and in 3-β-hydroxysteroid dehydrogenase in 3.2% (n=6) of cases. A total of 40.7% (n=75) of children underwent corrective surgery of the external genitalia. Conclusion: Congenital adrenal hyperplasia is a group of rare diseases. The best therapeutic alternative would be newborn screening and antenatal diagnosis.

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Section: Discussionsupporting

confidence: 93%

“…This deficit represented 4.8% (n=9) in this study, consistent with literature data [ 11 , 12 ]. Its incidence is estimated at 1/100000 live births in non-consanguineous populations and can be as high as 1/5000 in the Moroccan Jewish population [ 12 ]. It is caused by mutations in the CYP11B1 gene located on chromosome 8q21.…”

Section: Discussionsupporting

confidence: 93%

A Cross-Sectional Study of Congenital Adrenal Hyperplasia

Bouarab,

Yakine,

Bouchra

2024

Cureus

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“…The serum testosterone was measured at 6.2 ng/ml, and she was further diagnosed with hyperandrogenism. With increasing the hydrocortisone dose, the patient lost weight and menstrual cycles were returned (5). Our patient's blood pressure was not initially controlled with enalapril, atenolol, and amlodipine but returned to normal with spironolactone.…”

Section: Discussionmentioning

confidence: 66%

“…Systolic and/ or diastolic blood pressure are increased in these patients (4). The incidence of 11βOHD is one in one hundred thousand live births born to unrelated parents (5). 11β-hydroxylation is an enzymatic reaction required for 1 the biosynthesis of cortisol in the Zona Fasciculata (ZF) in the adrenal cortex.…”

Section: Introductionmentioning

confidence: 99%

Treatment of Hypertension in a Child With 11Beta-Hydroxylase Deficiency: A Case Report

Saffari

Arad

2022

JPR

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Introduction: Deficiency of 11-hydroxylase is clinically presented by external genitalia virilization in girls and precocious puberty in boys. Low renin hypertension occurs in both sexes. Early diagnosis and treatment of hypertension can prevent complications. Case presentation: We described a 4.5 years old girl of 46.XX, who presented with ambiguous genitalia at birth and hypertension later in follow-up. The patient had received the appropriate dosage of hydrocortisone and the level of 17-hydroxy progesterone was within the acceptable range but the hypokalemia persisted. Both hypertension and hypokalemia were normalized when spironolactone was added. Conclusion: Intermittent measurement of blood pressure is necessary for patients with 11β hydroxylase deficiency. In these patients, spironolactone is effective in treating mineralocorticoid-mediated hypertension and hypokalemia by blocking mineralocorticoid receptor.

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“…These complications were mainly reported in poorly controlled patients as indirectly documented by the severity of virilization ( 78 ). Other comorbidities have been rarely described in 11-OHD; obesity is less frequent in 11-OHD compared to 21-OHD ( 78 , 81 , 87 – 89 ), as observed in a Cyp11b1 null mouse model, which reflects the absence of direct GC effect on adipose tissue ( 90 ). Insulin resistance was found in 10.7% of the population analyzed ( 78 ) potentially related to MC excess and hypokalemia ( 90 ), but overt diabetes mellitus has been rarely reported ( 91 ).…”

Section: Cardiovascular Health In Uncommon Forms Of Cahmentioning

confidence: 99%

Metabolic syndrome and cardiovascular morbidity in patients with congenital adrenal hyperplasia

et al. 2022

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Since the introduction of glucocorticoid (GC) replacement therapy, congenital adrenal hyperplasia (CAH) is no longer a fatal disease. The development of neonatal screening programs and the amelioration of GC treatment strategies have improved significantly life expectancy in CAH patients. Thanks to these achievements, CAH patients are now in their adulthood, but an increased incidence of cardiovascular risk factors has been reported compared to general population in this stage of life. The aim of CAH treatment is to both prevent adrenal insufficiency and suppress androgen excess; in this delicate balance, under- as well as overtreatment might be equally harmful to long-term cardiovascular health. This work examines the prevalence of metabolic features and cardiovascular events, their correlation with hormone levels and GC replacement regimen in CAH patients and focuses on precocious markers to early detect patients at higher risk and new potential treatment approaches.

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Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency in a Tunisian family

Cited by 8 publications

References 10 publications

A Cross-Sectional Study of Congenital Adrenal Hyperplasia

A Cross-Sectional Study of Congenital Adrenal Hyperplasia

Treatment of Hypertension in a Child With 11Beta-Hydroxylase Deficiency: A Case Report

Metabolic syndrome and cardiovascular morbidity in patients with congenital adrenal hyperplasia

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