17α-hydroxylase Deficiency Mimicking Hyperaldosteronism by Aldosterone-producing Adrenal Adenoma / 대한내과학회지

17α-hydroxylase deficiency is a rare cause of congenital adrenal hyperplasia and is characterized by primary amenorrhea, delayed puberty and hypertension. Although 17α-hydroxylase deficiency mimics mineralocorticoid-induced hypertension, impaired sexual development can aid in the differential diagnosis of this disease. A 32-year-old woman, who had a history of testicular feminization syndrome, presented with hypertension. Her aldosterone level was elevated whereas plasma renin activity was reduced, and her computed tomography scan showed a left adrenal adenoma, which was thought to be an aldosterone producing adenoma. A left adrenalectomy was performed to treat hypertension; however, the condition did not improve. The hormonal tests revealed high levels of plasma progesterone, mineralocorticoid and adrenocorticotropic hormone, and low levels of 17a hydroxyprogesterone, cortisol and sex hormones. The patient was diagnosed with 17α-hydroxylase deficiency and commenced on prednisolone, which controlled hypertension. Here, we report a case of 17α-hydroxylase deficiency mimicking hyperaldosteronism via aldosterone-producing adrenal adenoma.

A case of 17 alpha-hydroxylase deficiency / 대한생식의학회지

17alpha-hydroxylase and 17,20-lyase are enzymes encoded by the CYP17A1 gene and are required for the synthesis of sex steroids and cortisol. In 17alpha-hydroxylase deficiency, there are low blood levels of estrogens, androgens, and cortisol, and resultant compensatory increases in adrenocorticotrophic hormone that stimulate the production of 11-deoxycorticosterone and corticosterone. In turn, the excessive levels of mineralocorticoids lead to volume expansion and hypertension. Females with 17alpha-hydroxylase deficiency are characterized by primary amenorrhea and delayed puberty, with accompanying hypertension. Affected males usually have female external genitalia, a blind vagina, and intra-abdominal testes. The treatment of this disorder is centered on glucocorticoid and sex steroid replacement. In patients with 17alpha-hydroxylase deficiency who are being raised as females, estrogen should be supplemented, while genetically female patients with a uterus should also receive progesterone supplementation. Here, we report a case of a 21-year-old female with 17alpha-hydroxylase deficiency who had received inadequate treatment for a prolonged period of time. We also include a brief review of the recent literature on this disorder.

Male Pseudohermaphroditism Presented with Sudden Cardiac Arrest

Torsades de Pointes is a life-threatening arrhythmia associated with a number of causes, but is very rare among endocrinologic disorders. We report a case of male pseudohermaphroditism with hyperaldosteronism due to a 17alpha-hydroxylase deficiency presented with sudden cardiac arrest.

A case of primary amenorrhea with hypertension due to 17alpha-hydroxylase deficiency / 대한산부인과학회지

17alpha- hydroxylase deficiency is a rare form of congenital adrenal hyperplasia and characterized by the coexistance of hypertension caused by the hyperproduction of mineralocorticoid precursors and sexual abnormalities, such as female pseudohermaphroditism and sexually infantile female with 46,XX karyotype or male pseudohermaphroditism with 46, XY karyotype, due to impaired production of sex hormone. We experienced a case of 17alpha- hydroxylase deficiency (46,XX) presented with primary amenorrhea, sexual infantilism, and hypertension. We report this case with a brief review of the concerned literatures.

A Case of Male Pseudohermaphroditism due to 17alpha-Hydroxylase Deficiency / 대한불임학회지

Female phenotype of a 46,XY male may originates from male pseudohermaphroditism due to 17alpha-hydroxylase deficiency. Lack of cortisol increases adrenocorticotropic hormone (ACTH) and mineralocorticoid production, leading to low renin hypertention and hypokalemia. A 41-year-old phenotypic female presented primary amenorrhea and hypertension. In the hormonal profile, the levels of serum estradiol, testosterone, rennin, and cortisol were decreased and ACTH and deoxycorticosterone were increased. Laparoscopic bilateral gonadectomy was performed, and corticosteroid, antihypertensive drugs, and estrogen were administered. We report this case with a brief review of the literatures.

A case of primary amenorrhea due to 17alpha- hydroxylase deficiency / 대한내과학회지

The enzyme, 17 -hydroxylase, is necessary for both cortisol and estrogen synthesis. Deficiency of the hormone results in increased adrenocorticotrophic hormone (ACTH), follicle-stimulating hormone (FSH). Synthesis of progesterone, 11-deoxycorticosterone (DOC), corticosterone and aldosterone don't require the enzyme. The lack of estrogen results in primary amenorrhea and absent sexual maturation. The replacement of dexamethasone and estrogens has lowered the blood pressure and produced feminization. A 19-year-old female had 46,XX genotype and presented amonorrhea, absence of sexual characteristics, hypertension and hypokalemia. Endocrinologic studies demonstrated increased plasma progesterone, ACTH levels and low production of 17 -hydroxyprogesterone and testosterone. We report a rare case of 17 -hydroxylase deficency with a brief history and review of the literature.

A Case of Primary Amenorrhea due to 17 -Hydroxylase Deficiency / 대한내분비학회지

17 -Hydroxylase deficiency is a rare form of congenital adrenal hyperplasia that is characterized by primary amenorrhea, absence of secondary sex characteristics, hypertension, and a hypokalemic alkalosis that has resulted resulting from increased production of deoxycorticosterone and corticosterone by the adrenal. The diagnosis of this enzyme deficiency can be recognized by the increasing serum concentrations of steroid precursors, DOC and corticosterone and the decreasing concentrations of cortisol, and adrenal androgens. We diagnosed this in a 19 year old female who presented with primary amenorrhea. We report this case with a review of the literatures.

A Case of 17alpha-Hydroxylase Deficiency

A 12-year-old girl with hypertension, hypokalemia, cystic ovaries and absence of secondary sexual development is presented. Hormonal study revealed very low levels of cortisol, testosterone, estrogen, and high levels of progesterone, deoxycorticosterone, corticosterone, FSH and ACTH. Following treatment with dexamethasone and estrogen, the levels of the latter group remarkably decreased. Serum potassium level and blood pressure also became normal. With all the above hormonal profile and clinical findings, we reached the diagnosis of 17alpha-hydroxylase deficiency and report this case with the review of literature.