A young patient with severe virilization, hypertension and bilateral adrenal hyperplasia A young patient with severe virilization, hypertension and bilateral adrenal hyperplasia AbstractWe describe an unusual late presentation of 11β-hydroxylase deficiency in a severely virilized, 23 year old patient, who presented with intracerebral haemorrhage, hypertension and short stature. The patient was raised as a male but had hypospadias, absent testicles from birth and had precocious puberty during his childhood. Plasma testosterone level was elevated (16 ng/mL) with suppressed FSH and LH levels (< 1 U/L). Basal 17-hydoxyprogesterone was markedly elevated (>19.2 ng/mL-ref range: 0.5-2.1 ng/mL). CT scan abdomen showed bilateral marked adrenal hyperplasia with mullerian structures and karyotyping showed 46 XX with negative sex-determining region Y (SRY) test. A clinical diagnosis of 11β-hydroxylase deficiency was made in view of hypertension with severe virilization in a 46 XX individual. The patient was managed with antihypertensive drugs, monitoring of serum testosterone and 17-hydroxyprogesterone levels since she the patient decided to remain as a male.
Graves' disease is an autoimmune disease characterized by hyperthyroidism due to circulating autoantibodies. Radioactive iodine (RAI) and antithyroid drugs (ATD) are the preferred initial treatment options in Graves' disease in many parts of the world. Long term treatment with methimazole in Grave's disease patients beyond the recommended period is shown to be safe and effective and emerging evidence suggests that continuous methimazole therapy may even be superior to RAI therapy in some aspects. Recent randomized trials comparing long-term methimazole to RAI in patients who relapse, have confirmed these findings.
A right homogeneous adrenal tumor was found incidentally, during abdominal computed tomography in a 72-year-old female patient, presenting with hypertension of 2 years duration. She had an elevated Aldosterone: Renin Ratio (ARR) and primary hyperaldosteronism was confirmed with a fludrocortisone suppression test. Plasma basal cortisol and adrenocorticotropic hormone (ACTH) levels were normal, but the plasma cortisol concentration could not be suppressed with dexamethasone. Therefore, an adrenal cortical adenoma with primary hyperaldosteronism and subclinical hypercortisolism was suspected. Urinary total metanephrines and vanillylmandelic acid (VMA) levels were also marginally elevated, indicating the possibility of a pheochromocytoma. After right adrenalectomy, the tumour was histologically demonstrated to be a pheochromocytoma, and the levels of all three hormone groups viz corticosteroid, mineralocorticoid and metanephrine levels normalized, indicating the possibility of a cosecretory small adrenocortical microadenoma.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.