• PMID: 22801570
• Gene Name: WT1
• Condition: Macrosomia, ambiguous genitalia
• Association: Mutations of the WT1 gene are considered as the most probable diagnosis, resulting in genital ambiguity and macrosomia due to additional altered insulin-like growth factor I (IGF-I) and IGF-II action.
• Population size: 1
• Population details: 1 case of macrosomia and genital ambiguity
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Macrosomia, ambiguous genitalia

Macrosomia and ambiguous genitalia: a long overdue answer to the citizens of Frusino

Vasileiou V, Armeni AK, Pierris AL, Georgopoulos NA.

In the literature of the Roman Era, a case of macrosomia and genital ambiguity in a newborn is described. Textual evidence concerning this case of androgynism and its symbolism is provided in the present study. Medical interpretation of such cases covers the entire spectrum of differential diagnosis of macrosomia concurrent with genital ambiguity. Female pseudohermaphroditism may be excluded from the differential diagnosis, as the adrenal cortex physiology of the female fetus renders the concurrence of overgrowth and androgen excess unlikely. It will therefore have been a case of 46XY disorder of sexual differentiation due to either fetal overgrowth syndromes (Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes) or to mutations of the WT1 gene. Mutations of the WT1 gene are considered as the most probable diagnosis, resulting in genital ambiguity and macrosomia due to additional altered insulin-like growth factor I (IGF-I) and IGF-II action. FAU - Vasileiou, Vasiliki AU - Vasileiou V AD - 1st Department of Endocrinology, Diabetes Centre, Alexandra Hospital, Athens, Greece. FAU - Armeni, Anastasia K AU - Armeni AK FAU - Pierris, Apostolos L AU - Pierris AL