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Hypertension in a neonate with 11 beta-hydroxylase deficiency
Insights
This study reports on the youngest infant diagnosed with 11 beta-hydroxylase deficiency, presenting with hypertension at birth. Early diagnosis and hydrocortisone treatment normalized blood pressure in this rare congenital adrenal hyperplasia case.
Area of Science:
- Endocrinology
- Pediatrics
- Genetics
Background:
- Congenital adrenal hyperplasia (CAH) encompasses a group of genetic disorders affecting adrenal steroidogenesis.
- 11 beta-hydroxylase deficiency is a rare form of CAH, leading to mineralocorticoid excess and hypertension.
Observation:
- A female newborn presented with ambiguous genitalia and severe hypertension immediately after birth.
- Elevated plasma levels of testosterone, delta 4-androstenedione, DHEA, and 17 OHP were noted.
Findings:
- Diagnosis of 11 beta-hydroxylase deficiency was confirmed by elevated plasma eleven-deoxycortisol (compound S).
- This is likely the youngest reported patient with 11 beta-hydroxylase deficiency presenting with neonatal hypertension.
Implications:
- Highlights the importance of early screening for CAH in neonates with ambiguous genitalia and hypertension.
- Successful management with hydrocortisone therapy underscores the efficacy of hormone replacement in normalizing blood pressure and steroid profiles.
Abstract:
A female newborn infant with ambiguous genitalia was found to have hypertension (121/82 mm Hg) immediately after birth. The plasma testosterone (T) (0.73 nmol/l), delta 4-androstenedione (delta 4-A) (5.9 nmol/l), dehydroepiandrosterone (DHEA) (8.9 nmol/l), as well as 17 OH-hydroxyprogesterone (17 OHP) (152 nmol/l) were elevated. The diagnosis of 11 beta-hydroxylase deficiency was finally established on the basis of elevated plasma eleven-deoxycortisol (compound S) (greater than 0.6 mumol/l) and confirmed by the normalisation of the blood pressure during hydrocortisone therapy. Our case is probably the youngest patient with 11 beta-hydroxylase deficiency in whom the hypertension was found at birth.