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.
As a typical hole-doped cuprate superconductor,Bi_(2)Sr_(2)CaCu_(2)O_(8+δ)(Bi2212)carrier doping is mostly determined by its oxygen content.Traditional doping methods can regulate its doping level within the range of hole doping.Here we report the first application of CaH_(2)annealing method in regulating the doping level of Bi2212.By continuously controlling the anneal time,a series of differently doped samples can be obtained.The combined experimental results of x-ray diffraction,scanning transmission electron microscopy,resistance and Hall measurements demonstrate that the CaH_(2)induced topochemical reaction can effectively change the oxygen content of Bi2212 within a very wide range,even switching from hole doping to electron doping.We also found evidence of a low-T_c superconducting phase in the electron doping side.
