Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, ...Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, justifying the present report. Case Report: We reported the cases of 3 female patients, diagnosed with hypothyroidism, presenting in addition pulmonary stenosis. The diagnosis was late in all the patients and we noticed clinical improvement under levothyroxine. Conclusion: Association congenital hypothyroidism and cardiac defect is not rare. Our patients are female with no history of consanguinity, presenting congenital hypothyroidism with a gland in situ associated with pulmonary stenosis. Systematic screening of other births defects is thus recommended in affected patients.展开更多
Introduction :Congenital adrenal hyperplasia (CAH) is the most common cause of primary adrenal insufficiency. It is a rare monogenic recessive disorder. In African setting in absence of neonatal screening, the diagnos...Introduction :Congenital adrenal hyperplasia (CAH) is the most common cause of primary adrenal insufficiency. It is a rare monogenic recessive disorder. In African setting in absence of neonatal screening, the diagnosis is still late, based on a clinical approach. During this clinical enquiry, information from past history or pedigree of the patient is of a huge importance and may revealed surprises. Patients and Methods: In this observational study, we retrospectively included all patients with a diagnosis of CAH. The diagnosis of CAH was retained based on a high 17 hydroxyprogesterone level in addition to clinical and morphological findings. From patients’ files, we extracted data on family history of disease, pedigree, clinical findings and genetics when available of 39 patients from two endocrinopeadiatric centers. Results: In 13 (30%) families, we found 20 reported deaths of infant less than 12 months. In these 13 families, half of the patients followed had 21 hydroxylase deficiencies and had 11 hydroxylase deficiencies. Unsurprisingly, we suspected adrenal insufficiency in these patients at verbal autopsy even in families with a patient with 11 hydroxylase deficiency. Other non DSD malformations or genetic disorders with apparently no link with CAH were reported in 3 families. The father of a patient reported to have hypospadias. Conclusion: Each diagnosis of CAH made in our context is visible part of an iceberg. Behind a diagnosis of CAH made in our setting, is a long course of care, a dramatic past history revealing access to appropriate care disparity. Neonatal screening should thus be considered as an emergency.展开更多
Congenital lipodystrophy is a group of rare syndrome characterized by the absence of subcutaneous tissue. Affecting less per million live birth, this condition associate metabolic disturbance including severe insulin ...Congenital lipodystrophy is a group of rare syndrome characterized by the absence of subcutaneous tissue. Affecting less per million live birth, this condition associate metabolic disturbance including severe insulin resistance and progeroid appearance. Diagnosis may be fortuitous or related to complications as presented in the present case series. Lipodystrophy can be generalized or localized. Acquired lipodystrophy is associated with some drugs like antiretroviral. Thus, the condition is well described in African HIV patients but data on congenital forms from Sub Saharan Africa are sparse, justifying the present report. We present four cases, with peculiar appearance associated with increased blood triglycerides. Two on four of the patients presented diabetes mellitus. Genetic testing was not available, questioning the actual guidelines of diagnosis for our context.展开更多
文摘Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, justifying the present report. Case Report: We reported the cases of 3 female patients, diagnosed with hypothyroidism, presenting in addition pulmonary stenosis. The diagnosis was late in all the patients and we noticed clinical improvement under levothyroxine. Conclusion: Association congenital hypothyroidism and cardiac defect is not rare. Our patients are female with no history of consanguinity, presenting congenital hypothyroidism with a gland in situ associated with pulmonary stenosis. Systematic screening of other births defects is thus recommended in affected patients.
文摘Introduction :Congenital adrenal hyperplasia (CAH) is the most common cause of primary adrenal insufficiency. It is a rare monogenic recessive disorder. In African setting in absence of neonatal screening, the diagnosis is still late, based on a clinical approach. During this clinical enquiry, information from past history or pedigree of the patient is of a huge importance and may revealed surprises. Patients and Methods: In this observational study, we retrospectively included all patients with a diagnosis of CAH. The diagnosis of CAH was retained based on a high 17 hydroxyprogesterone level in addition to clinical and morphological findings. From patients’ files, we extracted data on family history of disease, pedigree, clinical findings and genetics when available of 39 patients from two endocrinopeadiatric centers. Results: In 13 (30%) families, we found 20 reported deaths of infant less than 12 months. In these 13 families, half of the patients followed had 21 hydroxylase deficiencies and had 11 hydroxylase deficiencies. Unsurprisingly, we suspected adrenal insufficiency in these patients at verbal autopsy even in families with a patient with 11 hydroxylase deficiency. Other non DSD malformations or genetic disorders with apparently no link with CAH were reported in 3 families. The father of a patient reported to have hypospadias. Conclusion: Each diagnosis of CAH made in our context is visible part of an iceberg. Behind a diagnosis of CAH made in our setting, is a long course of care, a dramatic past history revealing access to appropriate care disparity. Neonatal screening should thus be considered as an emergency.
文摘Congenital lipodystrophy is a group of rare syndrome characterized by the absence of subcutaneous tissue. Affecting less per million live birth, this condition associate metabolic disturbance including severe insulin resistance and progeroid appearance. Diagnosis may be fortuitous or related to complications as presented in the present case series. Lipodystrophy can be generalized or localized. Acquired lipodystrophy is associated with some drugs like antiretroviral. Thus, the condition is well described in African HIV patients but data on congenital forms from Sub Saharan Africa are sparse, justifying the present report. We present four cases, with peculiar appearance associated with increased blood triglycerides. Two on four of the patients presented diabetes mellitus. Genetic testing was not available, questioning the actual guidelines of diagnosis for our context.
