DOI: http://dx.doi.org/10.18203/2320-1770.ijrcog20150764

Non-classical congenital adrenal hyperplasia presenting as primary amenorrhoea with virilization

Beeresh CS, Divyasree Doopadapalli, Amita Ray, Krishna Lingegowda

Abstract


Primary amenorrhea presents a diagnostic challenge even to the most experienced clinicians. The number, variety and the complexity of disorder that must be considered can seem daunting and in many instances include unfamiliar organ system. One such disorder is congenital adrenal hyperplasia (CAH). Here, we present a case of Non-classical congenital adrenal hyperplasia in a 16 year old female who presented to us with primary amenorrhea with virilization. This is an interesting case because of its unusual presentation, difficulty in diagnosis and complexity involved in treatment.


Keywords


Non classical congenital adrenal hyperplasia, Primary amenorrhea, Virilization

Full Text:

PDF

References


Pang SY, Wallace MA, Hofman L, et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 1988;81:866-74.

Genetic Steroid Disorders. New MI, Lekarev O, Parsa A, Yuen T, O’Malley B, Hammer G eds. 2013. Elsevier, San Diego, CA.

New M, Lekarev O, Lin-Su K, et al. Congenital Adrenal Hyperplasia. [Updated 2013 Oct 28]. In: De Groot LJ, Beck-Peccoz P, Chrousos G, et al., editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-. Available from: http://www.ncbi.nlm.nih.gov/books/NBK278953/

Aziz R, Rafi A, Smith BR, Bradley EL Jr, Zacur HA. On the origin of the elevated 17-hydroxy-progesterone levels after adrenal stimulation in hyperandrogenism. J Clin Endocrinol Metab 1990;70: 431-36.

Hindmarsh PC. Management of the child with congenital adrenal hyperplasia. Best Pract Res Clin Endocrinol Metab. 2009;23(2):193-208.