SRY-Positive 46XX Testicular Disorder of Sex Development as a Rare Cause of Male Hypergonadotropic Hypogonadism: A Case Report
Yıl: 2021 Cilt: 25 Sayı: 1 Sayfa Aralığı: 123 - 128 Metin Dili: İngilizce DOI: 10.25179/tjem.2020-73399 İndeks Tarihi: 14-12-2021
SRY-Positive 46XX Testicular Disorder of Sex Development as a Rare Cause of Male Hypergonadotropic Hypogonadism: A Case Report
Öz: 46XX testicular disorder of sex development (DSD) is a rare condition characterized by sexual differentiation disorder with testicular insufficiency. Normal sex development often complicates the diagnosis of this ailment in adults. Patients are usually diagnosed incidentally during infertility research. In this article, we aimed to highlight the hormonal, molecular, and cytogenetic results of an adult male patient diagnosed with 46XX testicular DSD suffering from hypergonadotropic hypogonadism.
Anahtar Kelime: Erkek Hipergonadotropik Hipogonadizmin Nadir Bir Sebebi Olarak SRY Pozitif 46XX Testiküler Cinsel Gelişim Bozukluğu: Olgu Sunumu
Öz: 46XX testiküler cinsel gelişim bozukluğu (CGB), testiküler yetmezliğin eşlik ettiği cinsiyet farklılaşma bozukluğu ile karakterize olan nadir bir durumdur. Normal cinsiyet gelişimi, genellikle erişkinlerde bu hastalığın teşhisini zorlaştırır. Hastalar, genellikle infertilite araştırılması sırasında tesadüfen teşhis edilir. Bu yazıda, hipergonadotropik hipogonadizmi olan, 46XX testiküler CGB tanısı almış bir yetişkin erkek hastanın hormonal, moleküler ve sitogenetik sonuçlarını vurgulamayı amaçladık.
Anahtar Kelime: Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
- 1. de la Chapelle A. The etiology of maleness in XX men. Hum Genet. 1981;58:105-116. [Crossref] [PubMed]
- 2. Ergun-Longmire B, Vinci G, Alonso L, Matthew S, Tansil S, Lin-Su K, McElreavey K, New MI. Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature. J Pediatr Endocrinol Metab. 2005;18:739-748.[Crossref] [PubMed]
- 3. Zenteno-Ruiz JC, Kofman-Alfaro S, Méndez JP. 46,XX sex reversal. Arch Med Res. 2001;32:559- 566.[Crossref] [PubMed]
- 4. Anık A, Çatlı G, Abacı A, Böber E. 46,XX male disorder of sexual development:a case report. J Clin Res Pediatr Endocrinol. 2013;5:258-260.[Crossref] [PubMed] [PMC]
- 5. Velasco G, Savarese V, Sandorfi N, Jimenez SA, Jabbour S. 46, XX SRY-positive male syndrome presenting with primary hypogonadism in the setting of scleroderma. Endocr Pract. 2011;17:95- 98.[Crossref] [PubMed]
- 6. Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E. Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients. J Clin Endocrinol Metab. 2007;92:3458-3465.[Crossref] [PubMed]
- 7. Fechner PY, Marcantonio SM, Jaswaney V, Stetten G, Goodfellow PN, Migeon CJ, Smith KD, Berkovitz GD, Amrhein JA, Bard PA. The role of the sex-determining region Y gene in the etiology of 46,XX maleness. J Clin Endocrinol Metab. 1993;76:690- 695.[Crossref] [PubMed]
- 8. Parma P, Radi O, Vidal V, Chaboissier MC, Dellambra E, Valentini S, Guerra L, Schedl A, Camerino G. Rspondin1 is essential in sex determination, skin differentiation and malignancy. Nat Genet. 2006;38:1304-1309.[Crossref] [PubMed]
- 9. Ryan NA, Akbar S. A case report of an incidental finding of a 46,XX, SRY-negative male with masculine phenotype during standard fertility workup with review of the literature and proposed immediate and long-term management guidance. Fertil Steril. 2013;99:1273-1276.[Crossref] [PubMed]
- 10.Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E. Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients. J Clin Endocrinol Metab. 2007;92:3458-3465.[Crossref] [PubMed]
- 11. Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN, Fellous M. Genetic evidence equating SRY and the testis-determining factor. Nature. 1990;348:448-450.[Crossref] [PubMed]
- 12. White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev. 2000;21:245-291. Erratum in: Endocr Rev 2000;21:550.[Crossref] [PubMed]
- 13.Woelfle J, Hoepffner W, Sippell WG, Brämswig JH, Heidemann P, Deiss D, Bökenkamp A, Roth C, Irle U, Wollmann HA, Zachmann M, Kubini K, Albers N. Complete virilization in congenital adrenal hyperplasia: clinical course, medical management and disease-related complications. Clin Endocrinol (Oxf). 2002;56:231-238.[Crossref] [PubMed]
- 14. Sreejith PS, Balakrishnan S, Sankar VH, Syamala R, Mohan R, Sundaram S, Govindan K, Chandramohanan Nair KRN. Patient with Disorders of Sex Development (DSD): A case report from a Tertiary Care Hospital in Thiruvananthapuram, India. J Reprod Infertil. 2019;20:191-194.[PubMed] [PMC]
- 15.Gunes S, Asci R, Okten G, Atac F, Onat OE, Ogur G, Aydin O, Ozcelik T, Bagci H. Two males with SRYpositive 46,XX testicular disorder of sex development. Syst Biol Reprod Med. 2013;59:42-47. [Crossref] [PubMed]
- 16.Agardh CD, Rasmussen F, Nilsson-Ehle P, Gustafson A. Influence of treatment with diethylstilbestrol for carcinoma of prostate on platelet aggregation and plasma lipoproteins. Urology. 1986;28:469- 471.[Crossref] [PubMed]
- 17.Corona G, Rastrelli G, Monami M, Guay A, Buvat J, Sforza A, Forti G, Mannucci E, Maggi M. Hypogonadism as a risk factor for cardiovascular mortality in men: a meta-analytic study. Eur J Endocrinol. 2011;165:687-701. [Crossref] [PubMed]
| APA | Can M, KOCABAŞ M, Çordan İ, Caliskan Burgucu H, Karakose M, Kulaksizoglu M, KARAKURT F (2021). SRY-Positive 46XX Testicular Disorder of Sex Development as a Rare Cause of Male Hypergonadotropic Hypogonadism: A Case Report. , 123 - 128. 10.25179/tjem.2020-73399 |
| Chicago | Can Mustafa,KOCABAŞ MUHAMMET,Çordan İlker,Caliskan Burgucu Hatice,Karakose Melia,Kulaksizoglu Mustafa,KARAKURT FERİDUN SRY-Positive 46XX Testicular Disorder of Sex Development as a Rare Cause of Male Hypergonadotropic Hypogonadism: A Case Report. (2021): 123 - 128. 10.25179/tjem.2020-73399 |
| MLA | Can Mustafa,KOCABAŞ MUHAMMET,Çordan İlker,Caliskan Burgucu Hatice,Karakose Melia,Kulaksizoglu Mustafa,KARAKURT FERİDUN SRY-Positive 46XX Testicular Disorder of Sex Development as a Rare Cause of Male Hypergonadotropic Hypogonadism: A Case Report. , 2021, ss.123 - 128. 10.25179/tjem.2020-73399 |
| AMA | Can M,KOCABAŞ M,Çordan İ,Caliskan Burgucu H,Karakose M,Kulaksizoglu M,KARAKURT F SRY-Positive 46XX Testicular Disorder of Sex Development as a Rare Cause of Male Hypergonadotropic Hypogonadism: A Case Report. . 2021; 123 - 128. 10.25179/tjem.2020-73399 |
| Vancouver | Can M,KOCABAŞ M,Çordan İ,Caliskan Burgucu H,Karakose M,Kulaksizoglu M,KARAKURT F SRY-Positive 46XX Testicular Disorder of Sex Development as a Rare Cause of Male Hypergonadotropic Hypogonadism: A Case Report. . 2021; 123 - 128. 10.25179/tjem.2020-73399 |
| IEEE | Can M,KOCABAŞ M,Çordan İ,Caliskan Burgucu H,Karakose M,Kulaksizoglu M,KARAKURT F "SRY-Positive 46XX Testicular Disorder of Sex Development as a Rare Cause of Male Hypergonadotropic Hypogonadism: A Case Report." , ss.123 - 128, 2021. 10.25179/tjem.2020-73399 |
| ISNAD | Can, Mustafa vd. "SRY-Positive 46XX Testicular Disorder of Sex Development as a Rare Cause of Male Hypergonadotropic Hypogonadism: A Case Report". (2021), 123-128. https://doi.org/10.25179/tjem.2020-73399 |
| APA | Can M, KOCABAŞ M, Çordan İ, Caliskan Burgucu H, Karakose M, Kulaksizoglu M, KARAKURT F (2021). SRY-Positive 46XX Testicular Disorder of Sex Development as a Rare Cause of Male Hypergonadotropic Hypogonadism: A Case Report. Turkish Journal of Endocrinology and Metabolism, 25(1), 123 - 128. 10.25179/tjem.2020-73399 |
| Chicago | Can Mustafa,KOCABAŞ MUHAMMET,Çordan İlker,Caliskan Burgucu Hatice,Karakose Melia,Kulaksizoglu Mustafa,KARAKURT FERİDUN SRY-Positive 46XX Testicular Disorder of Sex Development as a Rare Cause of Male Hypergonadotropic Hypogonadism: A Case Report. Turkish Journal of Endocrinology and Metabolism 25, no.1 (2021): 123 - 128. 10.25179/tjem.2020-73399 |
| MLA | Can Mustafa,KOCABAŞ MUHAMMET,Çordan İlker,Caliskan Burgucu Hatice,Karakose Melia,Kulaksizoglu Mustafa,KARAKURT FERİDUN SRY-Positive 46XX Testicular Disorder of Sex Development as a Rare Cause of Male Hypergonadotropic Hypogonadism: A Case Report. Turkish Journal of Endocrinology and Metabolism, vol.25, no.1, 2021, ss.123 - 128. 10.25179/tjem.2020-73399 |
| AMA | Can M,KOCABAŞ M,Çordan İ,Caliskan Burgucu H,Karakose M,Kulaksizoglu M,KARAKURT F SRY-Positive 46XX Testicular Disorder of Sex Development as a Rare Cause of Male Hypergonadotropic Hypogonadism: A Case Report. Turkish Journal of Endocrinology and Metabolism. 2021; 25(1): 123 - 128. 10.25179/tjem.2020-73399 |
| Vancouver | Can M,KOCABAŞ M,Çordan İ,Caliskan Burgucu H,Karakose M,Kulaksizoglu M,KARAKURT F SRY-Positive 46XX Testicular Disorder of Sex Development as a Rare Cause of Male Hypergonadotropic Hypogonadism: A Case Report. Turkish Journal of Endocrinology and Metabolism. 2021; 25(1): 123 - 128. 10.25179/tjem.2020-73399 |
| IEEE | Can M,KOCABAŞ M,Çordan İ,Caliskan Burgucu H,Karakose M,Kulaksizoglu M,KARAKURT F "SRY-Positive 46XX Testicular Disorder of Sex Development as a Rare Cause of Male Hypergonadotropic Hypogonadism: A Case Report." Turkish Journal of Endocrinology and Metabolism, 25, ss.123 - 128, 2021. 10.25179/tjem.2020-73399 |
| ISNAD | Can, Mustafa vd. "SRY-Positive 46XX Testicular Disorder of Sex Development as a Rare Cause of Male Hypergonadotropic Hypogonadism: A Case Report". Turkish Journal of Endocrinology and Metabolism 25/1 (2021), 123-128. https://doi.org/10.25179/tjem.2020-73399 |
