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.

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.

Background Puberty is reported to be impaired in children with Sickle Cell Anemia (SCA). We therefore, aimed to explore clinical and hormonal features of puberty in Cameroonian children with emphasis on the factors associated with delayed puberty during SCA.Methods During a case-control study, we included 64 children aged 8 to 18 years with SCA matched to healthy controls. We assessed height, weight, body mass index, body composition and Tanner stages. Hormonal measurements included Follicle Stimulating Hormone, Luteinizing Hormone and sex steroids (estrogens/ testosterone) with radio-immunologic assays. We used a non-parametric test (Mann U Whitney Wilcoxon) to compare the median values ​​between cases and controls. We looked into associations between severity criteria of SCA and delayed puberty through multivariate analysis.Results Delayed puberty was reported in 27.3% of girls and 10% of boys with SCA. Median age of menarche was delayed by 2 years compared to controls. SCA patients had low free fat mass compared to controls (p = 0.03). Abnormal levels of Antimullerian hormone were reported in cases. History of severe infection, acute chest syndrome as well as low hemoglobin level were associated with delayed sexual maturation in children with SCA.Conclusion Our study reveals delayed puberty in children with SCA. Moreover, puberty is affected by severity of the disease. This highlights importance of regular monitoring of puberty during follow-up of these children.

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.

Background: Neonatal mortality remains a major public health problem in low income countries. The survival within the first 28 days of life remains a challenge in such countries. Many strategies have been implemented to reduce deaths in children under five especially in sub-Saharan Africa. Laquintinie Douala Hospital benefits from some of these measures including a perinatal network and an emergency voucher. We aimed to describe the main causes of neonatal deaths at Laquintinie Douala Hospital. Methods: We carried out a cross-sectional study including files of all deceased neonates in the neonatal unit during a 24 months period from January 1 st , 2017 to December 31 st , 2018. Data collection included socio-demographic characteristics of the mothers and the newborns, clinical and therapeutic data and the evolution of the newborn. We used SPSS 20 software for data analysis with a p-value less than 0.05. Results: We included 270 files with an overall mortality rate of 13.1% and a sex ratio of 1.2. The main causes of death included prematurity (37.8%), neonatal infection (34.1%) and neonatal asphyxia (24.4%). The main factors associated with deaths included informal sector (OR = 5.49; 95% CI 0.86 -34.77; p = 0.07) and a primary level of education for mothers, malaria during pregnancy (OR 2.28; 95% CI, 1.44 -3.12; p = 0.0001), very preterm babies (OR 6.45; 95% CI 4.68 -8.89; p < 0.001

Acute fever in the majority of children in resource-limited countries is attributable to malaria and often treated without laboratory evidence. The aim of the study was to characterize acute pediatric infectious fevers (APIF) in the pediatric department of the Douala Laquintinie Hospital. A cross-sectional study was conducted among children aged 2 months to 15 years who were admitted with an acute fever (anal temperature ≥ 37.5°C less than 5 days in infants and 7 days in adolescents). 200 children were included and followed up during their hospitalization. The mean age was 3.7 (IQ25-75: 1–4.6) years. More than 3 out of 5 patients (62.5%) came from another health facility and anemia accounted for 29% of the reasons for consultation associated with fever. The main symptoms were vomiting (28%), cough (26%), convulsions (21%) and diarrhea (20%). Skin-mucosal pallor (43.0%) and hepatosplenomegaly (26.0%) were the most common physical signs encountered. Among febrile children, 116/200 (58%) were infected with at least 1 pathogen, and 1/200 (0.5%) had a fever of unknown etiology. Malaria (53% vs 80.5% presumptive) associated with anemia (95.3% of cases) was the most common pathology associated with APIF, followed by pneumonia (19.5%), meningitis (11.5%) and urinary tract infections (10% vs 54.5% presumptive). Malaria was over-diagnosed on admission and over-treated as well as urinary tract infection. A better understanding of common pathogens carriage, a better capacity for improved diagnosis and a better applied clinical algorithm for febrile illnesses in children are needed.

Cryptococcosis is rare in children. We report a case of cryptococcal meningitis in an infant whose mother works as a poultry farmer (chicken farm). The infant was received in the context of fever with convulsions. We performed a lumbar puncture and started antibiotic treatment. Cerebrospinal fluid (CSF) analysis was performed including Indian ink staining. CSF results showed the presence of yeast and we replaced antibiotics with fluconazol-based treatment. After the loss of sight and the appearance of a motor deficit, a brain scan was performed showing cerebral edema. Several lumbar punctures were performed for 02 weeks until partial recovery of visual acuity and motor deficit. This case highlights the importance of taking into account the patient's history when making the diagnosis. In our case, the working conditions and the employment of the mother guided the realization of the Indian ink coloring of the CSF. Treatment with fluconazol continued for 22 weeks with a completely regained visual acuity and gradual improvement in motor deficit despite limited resources.

Bart's syndrome consists of congenital aplasia of the skin affecting only the lower limbs, associated with bullae over the skin and/or mucous membranes, as well as a nail anomaly. It is an extremely rare genetic disorder, which can be associated with other birth defects. We report the case of a newborn baby admitted at day 0 of life in the neonatal department, for multifocal skin detachment predominantly at the lower limbs. In addition, examination of the external genitalia revealed a clitoridomegaly genital bud measuring 14 mm, scrotalized and unfused genital bulges with the presence of 2 orifices. No gonad was palpated. The clinical diagnosis of Bart's syndrome associated with a disorder of sexual differentiation was retained. We hereby report the first case of Bart's syndrome described in Cameroon in association with a disorder of sexual differentiation.