JOURNAL ARTICLE
Add like
Add dislike
Add to saved papers

Congenital adrenal hyperplasia due to 11-hydroxylase enzyme deficiency in three siblings. A brief report.

To appraise clinicians of the presence of an uncommon cause of congenital adrenal hyperplasia in a Nigerian family, we present case reports of three siblings comprising two males (aged 4 years 10 months and 3 years 10 months) and a female (aged 16 months). The male patients presented with features of precocious pseudopuberty and had body weights and heights that were above the 95th percentiles on a standard growth chart. There was radiologic evidence for an advanced bone age of over 11 years in both patients, together with findings of sustained systemic hypertension. The female patient was discovered to have an abnormal hormonal profile during a screening of the unaffected children of their non-cosanguinous monogamous parents. The three siblings had morning plasma cortisol concentrations in the lower range of reference values together with markedly elevated levels of plasma androgens. These biochemical abnormalities together with the clinical features of precocious pseudopuberty in the two male patients led to the clinical suspicion of congenital adrenal hyperplasia (CAH). The enzymatic defect was believed to be due to 11-hydroxylase enzyme, because of the presence of sustained systemic hypertension in the male subjects. As routine family screening was instrumental in the discovery of the subclinical CAH in the female subject, it is thus suggested that clinicians should endeavour to undertake a detailed hormonal screening of family members of patients.

Full text links

For the best experience, use the Read mobile app

Group 7SearchHeart failure treatmentPapersTopicsCollectionsEffects of Sodium-Glucose Cotransporter 2 Inhibitors for the Treatment of Patients With Heart Failure Importance: Only 1 class of glucose-lowering agents-sodium-glucose cotransporter 2 (SGLT2) inhibitors-has been reported to decrease the risk of cardiovascular events primarily by reducingSeptember 1, 2017: JAMA CardiologyAssociations of albuminuria in patients with chronic heart failure: findings in the ALiskiren Observation of heart Failure Treatment study.CONCLUSIONS: Increased UACR is common in patients with heart failure, including non-diabetics. Urinary albumin creatininineJul, 2011: European Journal of Heart FailureRandomized Controlled TrialEffects of Liraglutide on Clinical Stability Among Patients With Advanced Heart Failure and Reduced Ejection Fraction: A Randomized Clinical Trial.Review

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app

Read by QxMD is copyright © 2021 QxMD Software Inc. All rights reserved. By using this service, you agree to our terms of use and privacy policy.

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app