DISORDERS OF SEX DIFFERENTIATION: EVALUATION AND MANAGEMENT, A DILEMMA

Sadaqat Jabeen, Mahnaz Faisal, Maleeha Nisar

Abstract


The term intersex used in the past has been replaced by “Disorders of Sex Differentiation”. In this condition the development of chromosomal, gonadal or anatomical sex is atypical. This problem creates anxiety to the parents and a challenge for attending doctor. The problems faced by the individual are sexual, reproductive, sex of raring, placement in the society and psychological impact. The optimal management of the patient should be individualized by multidisciplinary team. Three cases of Disorders of Sex Differentiation (DSD) are presented with different causes and presentations. Two cases carrying XY karyotype pattern, while one case was of XX. The diagnosis of swyers syndrome, 5 alpha reductase deficiency and congenital adrenal hyperplasia was made on the basis of genital tract development, hormonal analysis and karyotyping. The strange feature which was common in all these cases was the wish of patients as well as family members to adopt sex of raring as male.

Keywords: Disorder of sexual development; intersex gonadal dysgenesis; Awyers syndrome; congenital adrenal hyperplasia; 5 alpha reductase deficiency


References


Hughes IA. Disorder of sex development a new definition and classification. Best Pract Res Clin Endocrinol Metab 2008;22(1):119–34.

Hughes IA, Houk C, Ahmad SF, Lee PA. Consensus statement on management of intersex disorders. Arch Dis Child 2006;91(7):554–63.

Lee PA, Houk CP, Ahmad SF, Hughes IA. Consensus statement on management of intersex disorder. International consensus conference on intersex. Pediatrics 2006;118(2):e486–500.

Blackless M, Charuvastra A, Derryck A, Fausto-sterling A, Lauzanne K. Lee E. How Sexually dimorphic are we? Review and synthesis. Am J Hum Biol 2000;12(2):151–66.

Sax L. How common is intersex? A response to anne fausto-sterling. J Sex Res 2002;39(3):174–80.

Erdegan S, Kara C, Ucakturk A, Aydin M. Etiological classification and clinical assessment of children and adolescents with disorders of sex development. J Clin Res Endocrinol 2011;3(2):77–83.

Crosby BM, Mansauri R, Dietrich JD, Muccullough LB, Sultan UR, Austin EG, et al. State of the art review in gonadal dysgenesis: Challenges in diagnosis and management. Int J Pediatr Endocrinol 2014;2014(1):4.

Swyer GI. Male pseudohermaphiditism: A hitherto undiscribed form. Br Med J 1955;2(4941):709–12.

Vollrath D, Teote SD, Hilton A, Page CD. The human Y chromosome swyer GIM male preudohermophrodism: A hithesto underdescribed form. Br Med 1995;2:709–12.

Azidah AK, Nik Hazlina NH, Aishah MN. Swyer syndrome in a woman with pure 46, XY gonadal dysgenesis and a hypoplastic uterus. Malays Fam Physician 2013;8(2):58–61.

Patnayak RI, Suresh V, Jena A, Raja Gopal G, Vijayalakshmi B, Reddy AP, et al. Swyer syndrome: a case report with literature. JNMA J Nepal Medical Assoc 2012;52(186):72–4.

Bagec G, Bisgin A, Karauzam SB, Trak B, Laleu G. Complete gonadal diagnosis 46, XY (Swyer Syndrome) in two sister and then maternal aunt with female phenotype. Fertil Steril 2011;95(5):e1–3.

Beglund A, Johannson HT, Stochholm K, Viuft HM, Folder J, Mian MK, et al. Incidence, prevalence, diagnostic delay and clinical presentation of female 46XY disorders of sex development. J Clin Endocrinol Metab 2016;101(12): 4532–40.

Mangan RN, Tadokorna RC, Bunch T, Hughes AI. Androgen insensitivity syndrome. Best Pract Res Clin Endocrinol Metab 2015;29(4):569–80.

Hashmi A, Hanif F, Hanif MS, Abdullah EF, Shamim SM. Complete androgen insensitivity syndrome. J Coll Physicians Surg Pak 2008;18(7):442–4.

Houghes IA, Davis JD, Burch TI, Pasterski V, Mastroyannopoulou K, Dougall JM. Androgen insensitivity syndrome. Lancet 2012;380(9851):1419–28.

Winterborn HM, France EN, Raiti S. Incomplete testicular feminization. Arch Dis Child 1970;45(244):811–2.

Becker D, Waih LM, Chong YH, Gosai SJ, Henduson NK, Melburn J, et al. Topical dihydrotestosterone to treat micropenis secondary to partial androgen insensitivity syndrome (PAIS) before during and after puberty – a case series. J Pediatr Endocrinol Metab 2016;29(2):173–7.

Nunes E, Rodrigues C, Geraldes F, Aguas F. Differentiating swyer syndrome and complete androgen insensitivity syndrome: a diagnostic dilemma. J Pediatr Adolesc Gynaecol 2014;27(3)e67–8.

Aceto T Jr, Macgillivray MH, Caprano VJ, Munschaker RV, Raiti S. Congenital virilizing hyperplasia without acceleration of growth or bone maturation. JAMA 1996;198(13):1341–3.

Al-Agha A, Ochettrec AH, Al-Tamimi MD. Association between genotype, clinical presentation and severity of adrenal hyperplasia: a review. Turk J Pediatr 2012;54(4):323–32.


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