Hypertension in the young is defined as the occurrence of elevated blood pressure in patients aged <40 years. It is unusual for hypertension to be present before the second decade of life and more so in a pair of siblings. This study aimed to report a case of a sibling pair (18- and 16-year-olds), reared as females, who presented with primary amenorrhea and resistant hypertension. The initial presentation was hypertension. The siblings were treated with escalating doses of antihypertensive agents, including calcium channel blockers, beta-blockers, and diuretics, with suboptimal control. Primary amenorrhea led to an endocrine referral, and detailed evaluation revealed obesity, acne, atypical external genitalia, and palpable gonads. The hormonal panel showed low cortisol, elevated adrenocorticotropic hormones, and progesterone, along with hypokalemia, raising the possibility of a rare congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency. The siblings had a 46 XY karyotype, and CYP17A1 gene sequencing revealed a homozygous deletion of c.157_159TTC of the phenylalanine codon (thymine-thymine-cytosine) at amino acid position 54 (p.Phe54del) in exon 1, confirming our diagnosis. The siblings were treated with glucocorticoids and spironolactone, which remarkably improved the blood pressure, coupled with the gradual withdrawal of all antihypertensive agents. Psychological evaluation established a preference for the female gender. The siblings underwent bilateral gonadectomy with vaginoplasty, along with estrogen replacement therapy. Hypertension in the young suggests a secondary etiology, including renovascular and endocrine conditions. Our report highlights the CYP17A1 gene mutation, a rare form of monogenic hypertension presenting in phenotypical females with a male genotype.

Congenital adrenal hyperplasia, an innate error in adrenal steroid biosynthesis, triggers a wide range of consequences based on the level of enzyme blockade. Due to the various forms of enzyme deficiency and degree of penetration, the clinical features are very variable. In this case report, we present a form of congenital adrenal hyperplasia due to an enzymatic defect of CYP17A1, with a late diagnosis. The recognition of this pathology should occur as early as possible to avoid sequelae, both metabolic and psychological.

Congenital adrenal hyperplasia comprises a group of disorders resulting from defects in enzymes required for the synthesis of cortisol. The clinical presentation depends on the specific enzyme defect. We report a rare case of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. A 26-year-old female patient referred with hypertension and hypokalemia. She also had primary amenorrhea and lack of sexual development. The karyotype was 46, XY. Hormonal evaluation showed low serum levels of all steroid hormones, requiring alpha-hydroxylation, which included cortisol, 17 alpha-hydroxy progesterone, dehydroepiandrosterone sulfate, estradiol, and testosterone. The levels of adrenocorticotropic, follicle-stimulating, and luteinizing hormones were high. Radiological and surgical investigations failed to show a gonad. She also had a large myelolipoma. Treatment was commenced with low-dose dexamethasone and conjugated estrogen. Her hypertension and hypokalemia were resolved. The myelolipoma was removed by laparoscopy due to pain and sensation of heaviness. Our review of literature revealed that a combination of this disorder with either agonadism or myelolipoma is very rare and that only 2 previous cases have been reported for each entity.