Presentation
We present the case of a girl who consulted at age 8 years for short stature. On physical exam, the patient presented normal female phenotype, female external genitalia, with Tanner stage 1. Weight: 21,6 kg (sds -1,43); height: 115,4 cm (sds -3,1). [actapediatrica.com]
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]
Entire Body System
- Virilization
A WNT4 mutation associated with Mullerian-duct regression and virilization in a 46, XX woman. N Engl J Med., 351 (2004), pp. 792-798 [17.] B. Bardoni, E. Zanaria, S. Guioli, G. Floridia, K.C. Worley, G. Tonini, et al. [elsevier.es]
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]