[Follow-up and management of children born small for gestational age a endocrine and metabolic aspects]. / Suivi et prise en charge des enfants nés petits pour l'âge gestationnel: aspects endo- crinologiques et métaboliques.

Children born premature and/or small for gestational age (SGA) are at risk of growth and metabolic abnormalities. Catch-up growth occurs usually before the age of 2. In the absence of sufficient catch up growth, growth hormone (GH) treatment should be evaluated under certain conditions. Children who were born premature and/or SGA are at higher risk of insulin resistance and metabolic abnormalities, especially in case of excessive weight gain during the first months of life. Puberty in these children occurs normally or slightly advanced, with no effect on gonadic function or fertility. Each step of the development of premature and/or SGA children present specific risks, which the pediatrician has to follow. If necessary, the pediatric endocrinologist will initiate a specific management.

46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.

Familial recurrence risks are poorly understood in cases of de novo mutations. In the event of parental germ line mosaicism, recurrence risks can be higher than generally appreciated, with implications for genetic counseling and clinical practice. In the course of treating a female with pubertal delay and hypergonadotropic hypogonadism, we identified a new missense mutation in the SRY gene, leading to somatic feminization of this karyotypically normal XY individual. We tested a younger sister despite a normal onset of puberty, who also possessed an XY karyotype and the same SRY mutation. Imaging studies in the sister revealed an ovarian tumor, which was removed. DNA from the father's blood possessed the wild type SRY sequence, and paternity testing was consistent with the given family structure. A brother was 46, XY with a wild type SRY sequence strongly suggesting paternal Y-chromosome germline mosaicism for the mutation. In disorders of sexual development (DSDs), early diagnosis is critical for optimal psychological development of the affected patients. In this case, preventive karyotypic screening allowed early diagnosis of a gonadal tumor in the sibling prior to the age of normal puberty. Our results suggest that cytological or molecular diagnosis should be applied for siblings of an affected DSD individual.