Retrospective study of the potential benefits and adverse events during growth hormone treatment in children with Prader-Willi syndrome.

Objective: To assess the effectiveness of growth hormone (GH) treatment of children with Prader-Willi syndrome (PWS) in clinical practice.

Study Design: This was a review of 23 patients with PWS (14 males, 9 females) under age 18 years, 10 of whom (5 males, 5 females) had been treated with GH for periods between 0.1 and 5.

Normal minipuberty of infancy in boys with Prader-Willi syndrome.

In 4 boys with Prader-Willi syndrome, 3 of whom had cryptorchidism, penile length and plasma testosterone levels at 5 to 10 weeks of life were normal. We suggest that cryptorchidism reflects decreased abdominal pressure rather than hypogonadism, which develops later from progressive degeneration of gonadotropin-releasing hormone neurons.

Pamidronate: Treatment for severe hypercalcemia in neonatal subcutaneous fat necrosis.

Background: Subcutaneous fat necrosis (SCFN) of the newborn is an uncommon disorder that occurs in the first weeks of life after foetal distress. It can be complicated by potentially life-threatening hypercalcemia. Treatments of hypercalcemia have included hydration, furosemide and corticosteroids.

Twenty years later: a reevaluation of the contribution of plasma thyroglobulin to the diagnosis of thyroid dysgenesis in infants with congenital hypothyroidism.

Background: The definition of the type of thyroid dysgenesis in congenital hypothyroidism (CH), ectopy, or athyreosis is important for monitoring patients and for genetic investigations. We have recently encountered infants who in spite of undetectable Technetium uptake on scintigraphy had biochemical results making athyreosis unlikely.

Objective: To reevaluate the utility of plasma thyroglobulin (Tg) in this clinical context using new sensitive Tg assays.