Presentation
A 46, XX male adolescent presenting with a chief complaint of gynecomastia. PediatrNeonatol[Internet]. 2015 [citado 24 sept 2018];56(5):3579. Disponible en: Ryan NA, Akbar S. [revcmhabana.sld.cu]
The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms’ tumor. Hum Mut., 13 (1999), pp. 146-153 [22.] B. Kohler, V. Schumacher, D. l'Allemand, B. Royer-Pokora, A. Grüters. [elsevier.es]
Musculoskeletal
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Short Arm
Tandem dupl(1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies. Am J Med Genet., 17 (1984), pp. 723-730 [15.] P. Wieacker, D. Missbach, S. Jakubiczka, S. Borgmann, N. Albrs. [elsevier.es]
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Long Arm
An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16. Fertil Steril. 2006;86:463.e1-5. Zakharia G, Krauss DJ. Sex reversal syndrome (XX male). [revistabiomedica.org]
Workup
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. [revcmhabana.sld.cu]
Etiology
The etiology of XX sex reversal. Reprod Nutr Dev. 1990;(Suppl.1):39s-49. [revistabiomedica.org]
Pathophysiology
Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function. Endocr Rev., 21 (2000), pp. 551-583 [32.] F.D. Porter. [elsevier.es]