Abstract
Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by enzymatic deficiencies in the biosynthesis of adrenal steroids. The most common 21-hydroxylase deficiency is characterized by a cortisol deficiency and an excess of androgens, with or without aldosterone deficiency. In our countries, in the absence of neonatal screening, the diagnosis is most often late leading to life-threatening complications. The aim of this study was to describe the diagnostic features of CAH at the Albert Royer National Children’s Hospital (ARNCH) in Dakar. Patients and method: We conducted a retrospective, descriptive study carried out at the pediatric endocrinology department of ARNCH from 2015 to 2019. All children aged under 15 with a form of CAH were included. Socio-demographic data, family history, clinical and biochemical data at presentation were collected. Patients were noted as presenting with Disorder of Sexual Development (DSD) with dehydration, DSD without dehydration, dehydration without DSD, precocious puberty. The Prader’s scale was used to determine the degree of external virilization. These data were entered and analyzed with Epi Info version 7.2. Results: A total of 32 patients were included, representing 74.41% of the causes of disorder of sexual development (DSD) and 84.21% of the causes of adrenal insufficiency. These were 27 girls (84.37%) and 5 boys (15.63%). The mean age was 19 ± 34.6 months. DSD was the main finding (87.5%). It was associated with dehydration in 22 cases (68.75%). 21-hydroxylase deficiency represented 93.75% of the cases with salt wasting in 73.33% of the cases. Conclusion: The diagnosis of CAH was delayed leading to life-threatening adrenal crises. In the absence of neonatal screening for CAH in Senegal, there is a need to train healthcare workers to recognize neonates with DSD early and refer them timeously for specialist care.
Highlights
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by enzymatic deficiencies in the biosynthesis of adrenal steroids
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by enzymatic defects in the biosynthesis of adrenal steroids
A total of 80 patients were seen at the pediatric endocrinology clinic during the study period for suspected CAH: 43 cases of Disorder of Sexual Development (DSD) and 38 cases of adrenal insufficiency
Summary
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by enzymatic defects in the biosynthesis of adrenal steroids. Less frequent types of CAH are 11α-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase deficiency, 17β-hydroxylase deficiency, or exceptionally StAR and P450 oxidoreductase deficiencies [2] It is a relatively rare condition, affecting 1 in 15,000 births [3]. The nonclassical form is rarely diagnosed before the onset of puberty and usually is suspected in females because of hirsutism and menstrual cycle irregularities [4] It is most often revealed in newborns with an abnormality of the external genitalia without palpated gonad; or around 8 - 15 days of signs of adrenal insufficiency (vomiting, hypoglycemia, lack of weight gain, dehydration) with hyponatremia, hyperkalemia and acidosis. Lack of screening facilities results in delayed and missed diagnosis and a high mortality in salt-wasting forms In this context we conducted this study with the aim of describing the diagnostic features of CAH at the Albert Royer National Children’s Hospital (ARNCH) in Dakar
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