MICRODELETION IN THE SRY GENE: CLINICAL MANIFESTATIONS IN A PHENOTYPIC FEMALE PATIENT WITH SWYER SYNDROME

SILVA-VIEIRA M.¹, SIMÕES-PEREIRA J.², TEIXEIRA A.³, PEREIRA C.^4
1Endocrinology Department, Instituto Português de Oncologia de Lisboa, Francisco Gentil, 1099-023 Lisbon, Portugal.
²Endocrinology Department, Instituto Português de Oncologia de Lisboa, Francisco Gentil, 1099-023 Lisbon, Portugal.
³Paediatric Department, Instituto Português de Oncologia de Lisboa, Francisco Gentil, 1099-023 Lisbon, Portugal.
⁴Endocrinology Department, Instituto Português de Oncologia de Lisboa, Francisco Gentil, 1099-023 Lisbon, Portugal.

Received : 16-02-2014     Accepted : 27-05-2014     Published : 05-06-2014
Volume : 5     Issue : 1       Pages : 60 - 62
Med Case Rep 5.1 (2014):60-62
DOI : http://dx.doi.org/10.9735/0976-8726.5.1.60-62

Keywords : ovarian dysgerminoma, gonadal dysgenesis, Swyer syndrome, puberty induction
Conflict of Interest : None declared

Background: Swyer Syndrome (or pure gonadal dysgenesis [PGD]) is a rare condition characterized by a karyotype 46, XY in a phenotypic female subject. Deletions in the SRY gene are responsible for 20% of the cases. These individuals are completely devoid of any gonadal steroid production and have a higher risk of developing neoplastic transformation of germ cell (until 75%). Case Report: A 14-year-old girl was referred to our centre by her general physician for a large pelvic mass. After going throughout complementary evaluation, the patient was diagnosed with an ovarian dysgerminoma. The patient underwent neo-adjuvant chemotherapy and bilateral gonadectomy. The karyotype of blood sample and tumour was 46, XY and the study of molecular changes in SRY gene showed a micro deletion in Yp11.23 that is responsible for a codifying sequence deletion of the gene. The patient has initiated hormonal therapy with estradiol at 15 (adding a progesterone formulation after breast development was completed), and she has achieved an adult sexual development and the mid-parental height. Nowadays the patient is 23 years-old and maintains follow up in endocrinology and oncological outpatient clinic. Conclusion: The present case emphasizes the importance of a multidisciplinary approach in Swyer Syndrome, not only for preventing gonadal malignancy, but also for getting a normal pubertal development.

[1] Järger R.J., Anvret M., Hall K. & Scherer G. (1990) Nature, 348, 452-454.  
» CrossRef   » Google Scholar   » PubMed   » DOAJ   » CAS   » Scopus  

[2] Michala L., Goswami D., Creighton S. & Conway G. (2008) BJOG: An International Journal of Obstetrics & Gynaecology, 115(6), 737-741.  
» CrossRef   » Google Scholar   » PubMed   » DOAJ   » CAS   » Scopus  

[3] Jorgensen P.B., Kjartansdóttir K.R. & Fedder J. (2010) Fertility and Sterility, 94, 105-113.  
» CrossRef   » Google Scholar   » PubMed   » DOAJ   » CAS   » Scopus  

[4] Robinson A. & Linden M.G. (1993) Ambiguous genitalia and hermaphroditism, Clinical genetic handbook, 2nd ed., Blacwell Scientific, Boston, 309-315.  
» CrossRef   » Google Scholar   » PubMed   » DOAJ   » CAS   » Scopus  

[5] Swyer G.I. (1955) British Medical Journal, 2, 709-712.  
» CrossRef   » Google Scholar   » PubMed   » DOAJ   » CAS   » Scopus  

[6] Guidozzi F., Ball J. & Spurdle A. (1994) Obstetrical and Gyne-cological Survey, 49, 138-146.  
» CrossRef   » Google Scholar   » PubMed   » DOAJ   » CAS   » Scopus  

[7] Mendonca B.B., Domenice S., Arnhold I.P. & Costa E.M. (2009) Clinical Endocrinology, 70, 173-187.  
» CrossRef   » Google Scholar   » PubMed   » DOAJ   » CAS   » Scopus  

[8] Hawkins J.R., Taylor A., Goodfellow P.N., Migeon C.J., Smith K.D. & Berkivitz G.D. (1992) Am. J. Hum. Genet., 51, 979-984.  
» CrossRef   » Google Scholar   » PubMed   » DOAJ   » CAS   » Scopus  

[9] Lim H.N., Freestone S.H., Romero D., Kwik C., Hughes I.A. & Haekins J.R. (1998) Mol. Cell Endocrinol., 140, 51-58.  
» CrossRef   » Google Scholar   » PubMed   » DOAJ   » CAS   » Scopus  

[10] Chomczyński P. (1993) Biotechniques, 3, 532-537  
» CrossRef   » Google Scholar   » PubMed   » DOAJ   » CAS   » Scopus  

[11] Cools M., Drop S.L., WolffenButtel J.W. & Looijenga L.H. (2006) Dev. Biol., 274, 271-279  
» CrossRef   » Google Scholar   » PubMed   » DOAJ   » CAS   » Scopus  

[12] Sinclair A.H., Berta A., Palmer M.S., Hawkins J.R., Griffiths B.L., Smith M.J., Foster J.W., Frischauf A.M., Lovell-Badge R. & Goodfellow P.N. (1990) Nature, 346, 240-244.  
» CrossRef   » Google Scholar   » PubMed   » DOAJ   » CAS   » Scopus  

[13] Quinn A. & Koopman P. (2012) Seminars in Reproductive Medi-cine, 30, 351-363.  
» CrossRef   » Google Scholar   » PubMed   » DOAJ   » CAS   » Scopus  

[14] Wilhelm D., Martinson F., Bradford S., Wilson, M.J., Combes, A.N., Beverdam A., Bowles J., Mizusaki H. & Koopman P. (2005) Dev. Biol., 287, 111-124.  
» CrossRef   » Google Scholar   » PubMed   » DOAJ   » CAS   » Scopus  

[15] Hawkins J.R. (1993) Human Mutation, 2, 347-350.  
» CrossRef   » Google Scholar   » PubMed   » DOAJ   » CAS   » Scopus  

[16] Ogata T. & Matsuo N. (1993) Hum. Genet., 91, 551-562  
» CrossRef   » Google Scholar   » PubMed   » DOAJ   » CAS   » Scopus  

[17] Gallager H.S. & Lewis R.P. (1973) Obstet. Gynecol., 41, 123-128.  
» CrossRef   » Google Scholar   » PubMed   » DOAJ   » CAS   » Scopus  

[18] Zielinska D., Zajaczek S. & Rzepka-Gorska I. (2007) J. Pediatr. Surg., 42, 1721-1724  
» CrossRef   » Google Scholar   » PubMed   » DOAJ   » CAS   » Scopus  

[19] Jurgensen M., Hiort O., Holterhus P.M. & Thyen U. (2007) Hor-mones and Behavior, 51, 443-453  
» CrossRef   » Google Scholar   » PubMed   » DOAJ   » CAS   » Scopus  

[20] Davis M. & Cartwright B. (2012) Clinical Endocrinology, 77, 182-186.  
» CrossRef   » Google Scholar   » PubMed   » DOAJ   » CAS   » Scopus