Pleiotropic genetic syndromes with developmental abnormalities associated with obesity.

Childhood obesity is a common and complex problem that may persist in adulthood. It may present as a component of genetic syndromes associated with dysmorphic features, developmental abnormalities, mental retardation and/or learning disabilities and often neuroendocrine dysfunction. Although the chromosomal abnormalities of these rare syndromes are already known, the specific genetic and pathophysiological mechanisms leading to the distinct phenotypes and obesity still remain unclarified.

Growth hormone deficiency in a patient with autoimmune polyendocrinopathy type 2.

Autoimmune polyglandular syndrome (APs) type 2 is characterized by the presence of Addison's disease, in association with autoimmune thyroid disease and/or type 1 diabetes mellitus and is rare in children. A 12.5 yr old prepubertal boy presented with symptoms related to Addison's disease and a large goiter.

Precocious puberty.

The term precocious puberty encompasses a group of heterogeneous conditions that range from variants of normal to slowly progressive and rapidly progressive maturation of both sexes. It is defined as the appearance of secondary sex characteristics before the age of 8 in girls and 9 in boys. The clinician who is evaluating a child with precocious puberty should be aware of the normal events of puberty, the ages at which pubertal milestones are achieved and the tempo of pubertal progression.

Phenotypic variability in children with growth hormone deficiency associated with posterior pituitary ectopia.

Objective: The cause of posterior pituitary ectopia (PPE) with anterior pituitary hormone deficiencies is unknown. This disease is usually considered sporadic. The objective of this study was to improve the phenotypic characterization of children with PPE and growth hormone deficiency (GHD) to seek insight into the mechanisms underlying abnormal pituitary-gland development.

Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability.

A mosaic karyotype consisting of a 45,X cell line and a second cell line containing a normal or an abnormal Y chromosome is relatively common and is associated with a wide spectrum of clinical phenotypes. The aim of this study was to investigate patients with such a mosaic karyotype for Y chromosome material loss and then study the possible association of the absence of these regions with the phenotype, diagnosis, and Y-chromosome instability. We studied 17 clinically well-characterized mosaic patients whose karyotype consisted of a 45,X cell line and a second cell line containing a normal or an abnormal Y chromosome.

Selecting girls with precocious puberty for brain imaging: validation of European evidence-based diagnosis rule.

Objectives: To test the sensitivities of recently published American recommendations predicting occult intracranial lesion (OICL) in girls with central precocious puberty (CPP), and to validate a previously derived diagnosis rule predicting OICL based on age at puberty onset and estradiol (E2) level.

Study Design: A retrospective, multicenter, hospital-based, cohort study was performed, including all girls with CPP seen in 7 centers in 6 European countries during given periods. American recommendations and the previously derived diagnosis rule were tested.