Background The diagnose of DSD is a challenge for medical staff, family and society.
Material and method We study 15 patients with DSD, between 2005–2011. The study protocol included anamnesis, clinical examination: auxiological dates, degree of puberty (Tanner), genitalia conformation (Prader stages) and its consistency with social sex. Laboratory datas: karyotype, gonadotrophins, testosterone, DHT, inhibin B, DHEA and DHEAS, 17OH progesterone; SRY gene (in selected cases) was performed. In all the cases we perform psychological exams of the child and family.
Results We have eight, 46 XX, and three 46 XY subjects. According to age we have 4 groups: newborns (2), children between 1–3 years(4), between 3–6 years (6) and more than 10 years(2). The diagnosis was: CAH 8 cases, PAIS 1 case, Simith-Lemli-Optz- Syndrome 1 case, Leyding cell hypoplasia 1 case. In neonatal period the correct assessment of social sex reveal minimal psychological familial problems. Adolescent CAH have general psychological distress higher rates of substance abuse, somatization, and suicidal behaviors. PAIS child want to change “her” sex because poorer social and interpersonal relationship functioning. The family doesn’t agree because they live in a community with specific rules.
In DSD cases the assessment of sex must be done in neonatal period after careful evaluations of the child.
The psychological implications are more deep and affect the child, family and the society.
The right of the child must be protected by specific low of the state.