BackgroundHigh level of androgens found in congenital adrenal hyperplasia (CAH) seems to have a deleterious effect on heart function. We therefore evaluate cardiac function of children with CAH in comparison with a healthy group.MethodsWe carried out a case-control study in the single endocrinology unit of the Mother and Child Center of Chantal Biya’s Foundation. Cases were matched for age and genotypic sex to 2 healthy controls. We analyzed the ejection fraction (LVEF), fractional shortening and left ventricular mass; output and cardiac index; E and A waves velocities, E/A ratio and the mitral deceleration time and diameter of the left atrium; tricuspid annular plane systolic excursion and pulmonary artery systolic pressure were also measured.ResultsWe included 19 patients with a median age of 6.26 ± 3.75 years and 38 controls stackable distribution. The left ventricular mass of cases was greater than that of controls. A case of reversible cardiomyopathy on hormone replacement therapy was found.For the cases, the average ejection fraction was 71.95 ± 7.88%; the average fractional shortening was 40.67 ± 7.02%. All these values were higher than those of controls, although the difference was not statistically significant. Diastolic left ventricular function was more impaired among the cases.Right ventricular function was similar in both groups. These abnormalities were highly correlated to the late age at diagnosis and duration of treatment.ConclusionThis study shows an altered cardiac function in CAH compared to healthy control and highlights importance of an early diagnosis of cases, a tight control of androgens levels and a regular monitoring of cardiac function.
Thoracotomy and decortication in children with empyema can be safely done in Cameroon using a simple drainage system with good results compared to those in the literature.
IntroductionAccording to the current classification of the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Pediatric Endocrinology (ESPE) of Disorders of Sex Development (DSD), etiologies vary around the world. Ethnic or genetic diversity probably explains this variability. We therefore conducted the present study on etiologies of DSDs in a country from central Africa.MethodsWe carried out an observational retrospective study at the Pediatric Endocrinology Unit of the Mother and Child Centre of the Chantal Biya Foundation in Yaounde, Cameroon from May 2013 to December 2019. All patients diagnosed with a DSD were included, and incomplete files excluded.ResultsWe included 80 patients diagnosed with DSD during the study period. The 46,XX DSD were the most frequent in our study population (n = 41, 51.25%), with congenital adrenal hyperplasia (CAH) as the main diagnosis. The 46,XY DSD accounted for 33.75% and sex chromosome DSD group represented 15% of the study population.ConclusionsDSDs are not an exceptional diagnosis in a Sub-Saharan context. 46,XX DSD are the most prevalent diagnosis in our setting. The diagnosis of all these affections is late compared to other centers, justifying advocacy for neonatal screening of DSDs in our context.
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.
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