[Growth hormone of dried blood spot for the diagnosis of growth hormone deficiency].

Introduction: The diagnosis of growth hormone deficiency (GHD) is difficult to determine, and could be associated with severe complications, especially in the neonatal period. The stimulation test of growth hormone (GH) secretion is considered the gold standard for diagnosis, but it has methodological complications and is associated with adverse effects. Neonates present physiological increased secretion of GH, representing a diagnostic window.

[Granulosa cell ovarian tumor: precocious puberty in infant less than 1 year of age. Case report].

Introduction: Juvenile granulosa cell tumors (JGCT) are very rare, especially in infants under the age of one. The most frequent presentation is with signs of precocious puberty.

Objective: Present an in fant with peripheral precocious puberty, diagnosis of JGCT and follow up.

A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects.

Background: Deletions in the SHOX gene are the most frequent genetic cause of Leri-Weill syndrome and Langer mesomelic dysplasia, which are also present in idiopathic short stature.

Aim: To describe the molecular and clinical findings observed in 23 of 45 non-consanguineous Chilean patients with different phenotypes related to SHOX deficiency.

Methods: Multiplex ligation-dependent probe amplification was used to detect the deletions; the SHOX coding region and deletion-flanking areas were sequenced to identify point mutations and single-nucleotide polymorphisms (SNPs).

Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein.

Familial glucocorticoid deficiency (FGD) is a rare inherited disorder which may be caused by mutations in the ACTH receptor (melanocortin 2 receptor, MC2R) named FGD type 1 or by mutations in the MC2R accessory protein (MRAP) named FGD type 2. We report the case history of a male patient from birth until adulthood with FGD type 2, confirmed by a mutation of the MRAP gene.

Accidental clozapine intoxication in a ten-year-old child.

Clozapine is a tricyclic dibenzodiazepine derivative used commonly in the treatment of schizophrenia. Severe side effects of overdose have been described in children. This report describes the unintentional ingestion of clozapine by a 10-y-o girl, presenting dramatic changes of mental status and progressive alteration of consciousness with a Glasgow Coma Scale drop from 12 to 7.