FEMALE PSEUDO HERMAPHRODITISM: LATE ONSET CONGENITAL ADRENAL HYPERPLASIA
AbstractNon-classic congenital adrenal hyperplasia is a genetic condition caused by deficiency of 21-hydroxylase deficiency (NCAH). It is a milder and later onset form of a genetic condition known as congenital adrenal hyperplasia. We present four cases of non-classical congenital adrenal hyperplasia presented in gynae OPD foundation university medical college Fauji foundation hospital from Jan 2016 to March 2017. The presenting complaints were hirsuitim, menstrual problem and virilization of genitalia. Two girls were having primary amenorrhea while rests of two were having secondary amenorrhea. Two patients were already diagnosed as non-classical congenital adrenal hyperplasia due to ambiguous genitalia at the time of birth while the rest of two with marked clitoromegaly were diagnosed during workup in gynae OPD. Menarche was achieved successfully among those with primary amenorrhea after treatment. All four girls were referred to plastic surgery for clitoral reduction surgery. The post-surgery patient satisfaction level was high. Correct diagnosis of the disease can cure the patient instead of letting her live a life of being labeled with social stigmata of an intersex individual.Keywords: Non-classical congenital adrenal hyperplasia; hirsuitism; Clitoromegaly
Speiser PW, White PC. Congenital adrenal hyperplasia. N Engl J Med 2003;349(8):776–88.
Blank SK, McCartney CR, Helm KD, Marshall JC. Neuroendocrine effects of androgens in adult polycystic ovary syndrome and female puberty. Semin Reprod Med 2007;25(5):352–9.
Levin JH, Carmina E, Lobo RA. Is the inappropriate gonadotropin secretion of patients with polycystic ovary syndrome similar to that of patients with adult-onset congenital adrenal hyperplasia? Fertil Steril 1991;56(4):635–40.
Spritzer P, Billaud L, Thalabard JC, Birman P, Mowszowicz I, Raux-Demay MC, et al. Cyproterone acetate versus hydrocortisone treatment in late-onset adrenal hyperplasia. J Clin Endocrinol Metab 1990;70(3):642–6.
Feldman S, Billaud L, Thalabard JC, Raux-Demay MC, Mowszowicz I, Kuttenn F, et al. Fertility in women with late-onset adrenal hyperplasia due to 21- hydroxylase deficiency. J Clin Endocrinol Metab1992;74(3):635–39.
Casteràs A, De Silva P, Rumsby G, Conway GS. Reassessing fecundity in women with classical congenital adrenal hyperplasia (CAH): normal pregnancy rate but reduced fertility rate. Clin Endocrinol (Oxf) 2009;70(6):833–7.
Moran C, Azziz R, Carmina E, Dewailly d, Fruzzetti F, Ibanez L, et al. 21-hydroxylase-deficient nonclassic adrenal hyperplasia is a progressive disorder: a multicenter study. Am J Obstet Gynecol 2000;183(6):1468–74.
Bidet M, Bellanné-Chantelot C, Galand-Portier MB, Tardy V, Billaud L, Laborde K, et al. Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members. J Clin Endocrinol Metab 2009;94(5):1570–78.
Azziz R, Dewailly D, Owerbach D. Clinical review 56: Nonclassic adrenal hyperplasia: current concepts. J Clin Endocrinol Metab 1994;78(4):810–15.
Dewailly D. Nonclassical 21-hydroxylase deficiency. Semin Reprod Med 2002;20(3):243–8.
Escobar-Morreale HF, Sanchón R, San Millán JL. A prospective study of the prevalence of nonclassical congenital adrenal hyperplasia among women presenting with hyperandrogenic symptoms and signs. J Clin Endocrinol Metab 2008;93(2):527–33.
Armengaud JB, Charkaluk ML, Trivin C, Tardy V, Breart G, Brauner R, et al. Precocious pubarche: distinguishing late-onset congenital adrenal hyperplasia from premature adrenarche. J Clin Endocrinol Metab 2009;94(8):2835–40.
Metzger DL, Wright NM, Veldhuis JD, Rogol AD, Kerrigan JR. Characterization of pulsatile secretion and clearance of plasma cortisol in premature and term neonates using deconvolution analysis. J Clin Endocrinol Metab 1993;77(2):458–63.
New MI, Gertner JM, Speiser PW, del Balzo P. Growth and final height in classical and nonclassical 21-hydroxylase deficiency. Acta Paediatr Jpn 1988;30(Suppl):79–88.
Moran C, Azziz R, Weintrob N, Witchel SF, Rohmer V, Dewailly D, et al. Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia. J Clin Endocrinol Metab 2006, 91 (9): 3451-56.
Fanta M, Hill M, Belácek J, Vrbíková J, Cibula D. Comparison of corticoid substitution versus combined oral contraception administration in the treatment of non-classic adrenal hyperplasia: a prospective study. Gynecol Endocrinol 2009;25(6):398–402.
Clayton PE, Miller WL, Oberfield SE, Ritzen EM, Sippell WG, Speiser PW. Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society. Horm Res 2002;58(4):188–95.
Joint LWPES/ESPE CAH Working Group. Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. J Clin Endocrinol Metab 2002;87(9):4048–53.