Pubertal patterns in children with sickle cell anemia: A case-control study in Cameroon.

BACKGROUND: Puberty may be impaired in children with sickle cell anemia (SCA). Therefore, we aimed to explore the clinical and hormonal features of puberty in Cameroonian children. METHODS: In a case-control study, we included 64 children aged 8-18 years with SCA matched to healthy controls. We assessed height, weight, body mass index, body composition, and Tanner stages. Hormonal measurements included anti-mullerian hormone, follicle-stimulating hormone, luteinizing hormone, and sex hormones (estrogens/testosterone). We used the Mann-Whitney Wilcoxon test to compare the median values between cases and controls. We looked for associations between the 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. The median age of menarche was delayed by 2 years compared to controls. SCA patients had a low lean body mass compared to controls (p = 0.03). Anti-mullerian hormone levels were significantly higher in boys with SCA than those of controls (45.9 ng/mL vs. 17.65 ng/mL; p = 0.018). A history of severe infection, acute chest syndrome, and low hemoglobin level was associated with delayed sexual maturation in children with SCA. CONCLUSION: Our study revealed delayed puberty in children with SCA. Moreover, puberty is affected by the severity of the disease. This highlights the importance of regular monitoring of puberty during the follow-up of these children.

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.

Haptoglobin Gene Polymorphism among Sickle Cell Patients in West Cameroon: Hematological and Clinical Implications.

Haptoglobin is a protein involved in protecting the body from the harmful effects of free hemoglobin. The haptoglobin gene exhibits a polymorphism, and the different genotypes do not have the same capacity to combat the free hemoglobin effects. The present study aimed at determining the polymorphic distribution of haptoglobin in sickle cell patients (SCPs) from West Cameroon and their impact on the hematological parameters, as well as clinical manifestations of the disease severity. Haptoglobin genotype of 102 SCPs (SS) and 115 healthy individuals (60 AA and 55 AS) was determined by allele-specific polymerase chain reaction, and the complete blood count was determined using the AutoAnalyser. Results showed that the genotype Hp2-2 was significantly (p < 0.05) represented in SS patients (54%) than in controls AA and AS (27% and 29%, respectively), while Hp2-1 was mostly found (p < 0.05) in AS (42%) and AA (38%), against 15% in SS. The allelic distribution in SS patients was Hp2: 0.613, Hp1S: 0.304, and Hp1F: 0.084. In AA and AS controls, the proportions of the Hp1 and Hp2 alleles were similar (around 0.5 each), with 0.282 for Hp1S and 0.218 for Hp1F in AS and 0.283 for Hp1S and 0.258 for Hp1F in AA. The distribution of the haptoglobin genotypes did not reveal any significant difference across hematological parameters and clinical manifestations of disease severity in SCP and controls. SCP with Hp1S-1F genotype presented the highest level of hemoglobin. Although Hp2-2 was more frequent in SS patients, it appeared not to be related to the hematological parameters and to the disease's severity. Further investigations are necessary to explore the impact of Hp polymorphism such as antioxidant, lipid profile, and functionality of some tissues in SCP in Cameroon.