DOI: http://dx.doi.org/10.18203/2320-1770.ijrcog20150769

A case report of young hypertensive with primary amenorrhea: uncommon variant of congenital adrenal hyperplasia

Divendu Bhushan, Mukta Agarwal

Abstract


Hypertension in young should be evaluated in detail because secondary causes are more common in this subset of patients. As on one hand it help us in treating blood pressure and its complications including stroke , coronary artery disease and renal failure, other hand we should also treat the other complications like growth, puberty and electrolyte imbalance. Here we present a case who admitted in cardiology unit with accelerated HTN and hypokalaemia, and on detailed evaluation found to have primary amenorrhea. Identification of the cause not only leads to correct hypertension with minimal drugs but she got the reason of her amenorrhea.


Keywords


Hypertension, Hypokalaemia, 17 Α Hydroxylase, Primary amenorrhea

Full Text:

PDF

References


De Crecchio L. Sopra UN caso di appearance virile in una donna.Morgagni. 1865;7:951.

Matteson KJ, Picado-Leonard J, Chung BC, Mohandas TK, Miller WL. Assignment of the gene for adrenal P450c17 (steroid 17 alpha-hydroxylase/17, 20 lyase) to human chromosome 10. J Clin Endocrinol Metab. 1986;63(3):789-91.

Lin D, Harikrishna JA, More CC, Jones KL, Miller WL. Missense mutation series 106-proline causes 17 α Hydroxylase deficiency. J Biol Chem. 1991;266:15992–8.

Bigelieri E G, Herron M A, burst N. Male Pseudo hermaphroditism due to 17 α Hydroxylase deficiency in man. J Clin Invest. 1966;45:1946–54.

Grumbach MM, Hughes IA, Conte FA. Disorder of sex differentiation. In: Larsen PR, Kronenberg HM, Melmed S, editors. Williams Textbook of Endocrinology. 10th ed. Philadelphia: Saunders; 2003. pp.842–1002.

Martin RM, Lin CJ, Costa EMF, et al: P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone level confirmed by CYP17 genotyping. J ClinEndocrinol Metabol. 2003;88:5739-46.

Sills IN , Macgillivray MH, Amrhein JA, Migeon CJ, Peterson RE: 17 alpha hydroxylase deficiency in a genetic male and female sibling pair. Int J Gynaecol Obstet. 1981;19(6):473-9.

Yanase T, Simpson E, Waterman M: 17 ALPHA- HYDROXYLASE/ 17, 20 LYASE DEF: from clinical investigation to molecular DE finition. Endocr Rev 1991;12:91-108.

Peter M, Sippell WG, Wernze H. Diagnosis and treatment of 17 a Hydroxylase deficiency. J Steroid Biochem Mol Biol. 1993;45:107–16.

SK Kota, KK Modi, R Jha, SN Mandal: 17 alpha hydroxylase def.: an unusual case with primary amenorrhea and hypertension. Indian J Endocrinol Metab. 2011;15(2):127–9.