Clinical, biochemical, and biomolecular aspects of congenital adrenal hyperplasia in a group of Cameroonian children and adolescents.

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.

Does HIV infection affect growth and puberty of Cameroonian children?

OBJECTIVES: This study aimed to describe growth and pubertal development of adolescents with HIV infection under highly active antiretroviral therapy (HAART) in Cameroon. DESIGN: Through an observational study, we included 74 adolescents aged 9-17 years who were taking HAART and had attended two care units in Cameroon for at least 6 months. Weight and height were measured and transferred to 2007 WHO curves for 5- to 19-year-olds. Stunting was defined by a height for age z-score less than -2 standard deviations. Wasting was defined by a BMI z-score for age less than -2 standard deviations. Pubertal development was assessed using Tanner stages. We looked into the association between HIV infection characteristics, HAART regimen, and growth/puberty abnormalities with multivariate analysis. The Mann-Whitney U-test was used to compare median values with a p-value ≤0.05. RESULTS: The median age was 13 (11.2-14.7) years. Stunting affected 44% of the children. Wasting affected 9.7% of the adolescents. The age at onset of puberty was in the normal range in both boys and girls. Adolescents aged 12-14 years (OR 3.4 [95% CI, 1.3-8.8], p=0.012) with a past history of opportunistic infection and taking HAART with protease inhibitors were more likely to have stunting. CONCLUSION: In the Cameroonian setting, growth was mainly affected by stunting, but pubertal development was normal in all patients. This may reflect the benefits of HAART in children with HIV infection.

A cross sectional study of growth of children with sickle cell disease, aged 2 to 5 years in Yaoundé, Cameroon.

INTRODUCTION: Growth of children affected by Sickle Cell Disease (SCD) is not well described in sub-Saharan Africa despite the high prevalence of the disease. Few data are available in this context and on the issue using the World Health Organization growth norms. We therefore conduct the present study with the aim of describing the growth of affected children aged less than 5 years. We also assessed correlation of anthropometric parameters with disease severity criteria. METHODS: A cross-sectional study was conducted during a period of 8 months, at the Mother and Child Center of Yaoundé. The sample included 77 children with SCD aged 2 to 5 years old in steady state. Anthropometric measurements and socio-demographic data were collected and analyzed. All statistical tests were two-tailed with p<0.05 considered significant. RESULTS: Median age of study population was 3.67 years. Low weight, height and weight for height Z-scores (<-2SD) were observed in 4%, 4%, and 5% of children, respectively. Projection of these parameters were stackable on WHO curves. Regression analysis indicated an association of low height-for-age and of low Body Mass Index (BMI)-for-age with age. CONCLUSION: This study demonstrates unexpectedly lower mean Z-score for weight, height and weight for height than reported while using WHO norms.

Incidence, prevalence and genetic determinants of neonatal diabetes mellitus: a systematic review and meta-analysis protocol.

BACKGROUND: In the absence of existing data, the present review intends to determine the incidence, prevalence and/or genetic determinants of neonatal diabetes mellitus (NDM), with expected contribution to disease characterization. METHODS: We will include cross-sectional, cohort or case-control studies which have reported the incidence, prevalence and/or genetic determinants of NDM between January 01, 2000 and May 31, 2016, published in English or French languages and without any geographical limitation. PubMed and EMBASE will be extensively screened to identify potentially eligible studies, completed by manual search. Two authors will independently screen, select studies, extract data, and assess the risk of bias; disagreements will be resolved by consensus. Clinical heterogeneity will be investigated by examining the design and setting (including geographic region), procedure used for genetic testing, calculation of incidence or prevalence, and outcomes in each study. Studies found to be clinically homogeneous will be pooled together through a random effects meta-analysis. Statistical heterogeneity will be assessed using the chi-square test of homogeneity and quantified using the I 2 statistic. In case of substantial heterogeneity, subgroup analyses will be undertaken. Publication bias will be assessed with funnel plots, complemented with the use of Egger's test of bias. DISCUSSION: This systematic review and meta-analysis is expected to draw a clear picture of phenotypic and genotypic presentations of NDM in order to better understand the condition and adequately address challenges in respect with its management. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD42016039765.

Premature death of children aged 2 months to 5 years: the case of the Mother and Child Center of the Chantal Biya Foundation, Yaounde, Cameroon.

BACKGROUND: In hospital premature deaths of children less than 5 years of age admitted for different reasons still remains very high in our context warranting study in order to reverse the tendency (using appropriate means). Our study was aimed at describing and analyzing cases of those children aged from 2 months to 5 years who died within the first 48 hours of their admission at the Mother and Child Center of the Chantal Biya Foundation (MCC/CBF). METHODS: It was a retrospective descriptive study. Data were extracted from the clinical records of the patients admitted from 2008 to 2012. Cases of accidental trauma were excluded from the study. Level of statistical significance was set at P<0.05. The approval of the ethical committee of the Université des Montagnes was also obtained. RESULTS: During the period of our study, out of the 14,200 patients aged 2 months and 5 years who were hospitalized 522 premature deaths were registered. This gives an incidence of 4.9%, representing 74.3% of all hospitalized deaths in this age group. Considering the fact that some of the files had very little information, only 373 files were studied. The sex ratio was 1.2. More astonishing was that a majority of the deaths occurred between midnight and 8 am. The most frequent registered cases were patients with severe malaria (42.6%), severe sepsis (20.6%), and acute lower respiratory tract infections (RTI) (16.1%) cases. One third of the patients had a poor nutritional status. CONCLUSIONS: The reinforcement of preventive measures and programs targeting the health of children such as the Integrated Management of Childhood Diseases (IMCD) would be a major priority in proffering a solution to this phenomenon.

Spectrum of heart diseases in children: an echocardiographic study of 1,666 subjects in a pediatric hospital, Yaounde, Cameroon.

BACKGROUND: Children's health programs in Sub-Saharan Africa have always been oriented primarily to infectious diseases and malnutrition. We are witnessing in the early 21(st) century an epidemiological transition marked by the decline of old diseases and the identification of new diseases including heart disease. Therefore, it is necessary to describe the spectrum of these diseases in order to better prepare health workers to these new challenges. METHODS: We conducted a cross-sectional study focused on heart disease diagnosed by echocardiography in children seen from January 2006 to December 2014 in a pediatric hospital of Yaounde. We collected socio-demographic data and the types of heart disease from registers, patients files as well as the electronic database of echocardiographic records. RESULTS: A total of 2,235 patients underwent echocardiographic examination during the study period including 1,666 subjects with heart disease. Congenital cardiopathies were found in 1,230 (73.8%) patients and acquired abnormalities in 429 (25.8%). Seven children (0.4%) had a combination of both types. Congenital heart defects (CHD) were dominated by ventricular septal defect (VSD). Acquired heart disease was mostly rheumatic valvulopathies. Dyspnea on exertion was the most frequent presenting complaint (87.6%). Discovery of a heart murmur was the principal clinical finding on physical examination (81.4%). The median age was 9 months for congenital heart disease and 132 months for acquired heart disease. CONCLUSIONS: As infectious diseases recede and the diagnostic facilities are improving, pediatric heart diseases occupy a more important position in the spectrum of pediatric diseases in our context. However, the ability to evoke the diagnosis remains unsatisfactory by the majority of health personnel and therefore needs to be improved. Apart from congenital heart diseases, the impact of acquired heart diseases, rheumatic valvulopathy being the highest ranking, is remarkable in pediatrics. Awareness of health personnel for better management of child tonsillitis is more than ever a necessity. This preventive attitude of rheumatic heart disease is the main attitude available in our disadvantaged economic environment.

Features of Turner syndrome among a group of Cameroonian patients.

OBJECTIVE: To describe the features of Turner syndrome among a group of Cameroonian patients. METHODS: A descriptive cross-sectional study was conducted among patients with amenorrhea and/or short stature who attended the genetic unit of Yaoundé Gynecology, Obstetrics and Pediatric Hospital (Yaoundé, Cameroon) for a specialist consultation between July 1, 2007, and December 31, 2008. Sociodemographic, clinical, and cytogenetic data were collected. RESULTS: Turner syndrome was confirmed among 11 of the 14 participants (seven had monosomy of the X chromosome; four had mosaicism involving a structural abnormality of the second X chromosome). The mean age at diagnosis was 18.4±2.8years. The reasons for consultation were delayed puberty (n=10) and short stature (n=1). Nine patients had a short neck, nine had a forearm carrying-angle deformity, eight had a low hairline, and two had a webbed neck. Abdominal ultrasonography identified a horseshoe kidney in two patients and a rudimentary uterus in nine patients. None of the patients displayed cardiac abnormalities. Hypergonadotropic hypogonadism was reported among five patients. Eight patients did not receive hormonal treatment owing to advanced bone age or economic reasons. CONCLUSION: Late diagnosis and variable phenotypic expression were key features of Cameroonian patients with Turner syndrome.