Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples.

Differences of sex development (DSDs) are a group of congenital conditions characterized by a discrepancy between chromosomal, gonadal, and genital sex development of an individual, with significant impact on medical, psychological and reproductive life. The genetic heterogeneity of DSDs complicates the diagnosis and almost half of the patients remains undiagnosed. In this context, chromosomal imbalances in syndromic DSD patients may help to identify new genes implicated in DSDs.

Impact of OMNIPOD® on the quality of life of adolescents with type 1 diabetes.

Introduction: Several pediatric studies have demonstrated that therapy using a conventional insulin pump improves glycemic control and quality of life. At the beginning of this study, a new tubeless insulin pump, Omnipod®, had recently been marketed in France.

Objectives: Analyze the response of adolescents treated with multiple injections to the proposal to use this new medical device and compare both the quality of life and the glycemic control of adolescents according to their choice.

Case Report of Clitoral Hypertrophy in 2 Extremely Premature Girls With an Ovarian Cyst.

Neonatal clitoromegaly is mainly attributed to in utero androgen exposure secondary to congenital adrenal hyperplasia. We report on 2 extremely premature girls with clitoromegaly, increased androgen levels, no salt wasting syndrome, and ovarian cyst. In case 1, the cyst liquid was aspired during ovarian hernia surgery and revealed high androgen levels.

Association between quality of life of adolescents with type 1 diabetes and parents' illness perception as evaluated by adolescents.

Children and adolescents account for half of all cases of type 1 diabetes, which is one of the most common pediatric chronic diseases. The disease's effects and the treatment/disease-management protocols patients must follow can lead to a marked deterioration in quality of life, especially for adolescents. Patients' illness perceptions have been shown to impact their quality of life, but do other people's illness perceptions also have an effect? The present study addressed this question by investigating possible links between the quality of life of adolescent patients with type 1 diabetes and illness perceptions, measured in terms of the adolescents' self-perceptions, parents' self-perceptions, and the adolescents' evaluations of their parents' perceptions.