Octreotide-related exocrine pancreatic insufficiency (EPI) in congenital hyperinsulinism.

Background Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn. Octreotide, a long-acting somatostatin receptor analog (SSRA), is a second line treatment for diazoxide unresponsive CH patients. Although it has been found to be a safe and effective treatment, long-term benefits and side effects, have not been thoroughly evaluated.

Thyroid Volume Assessment in 3-14 Year-Old Spanish Children from an Iodine-Replete Area.

Background/aims: Few data exist on reference thyroid volumes (Tvols) for Spanish children. The standard tables of the World Health Organization (WHO) are only for children older than 6 years. The present cross-sectional study reports the normal Tvols of 3-14 year-old girls and boys living in Madrid (Spain).

Nutritional status of iodine in children: When appropriateness relies on milk consumption and not adequate coverage of iodized salt in households.

Background & Aims: Iodine deficiency inhibits the normal development of human beings and is the leading cause of preventable mental retardation. Our study aims to update the urinary iodine concentrations and the intake of iodized salt in children in Madrid (Spain).

Methods: A cross-sectional study was designed where 217 children aged 3-14 years old were studied.

Is iodine nutrition in the Spanish pediatric population adequate? Historical review and current situation.

Iodine is an essential component of thyroid hormones, and iodine deficit is the leading cause of preventable mental retardation worldwide. Spain was considered iodine-deficient until 2003. Although iodine urinary levels have been in the optimal range in Spain since 2004, the WHO recognizes that our country does not meet the necessary requirements to ensure that the whole population is not at risk of an iodine deficiency disorder.

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.

Objective: Mutations in the aggrecan gene (ACAN) have been identified in two autosomal dominant skeletal dysplasias, spondyloepiphyseal dysplasia, Kimberley type (SEDK), and osteochondritis dissecans, as well as in a severe recessive dysplasia, spondyloepimetaphyseal dysplasia, aggrecan type. Next-generation sequencing (NGS) has aided the identification of heterozygous ACAN mutations in individuals with short stature, minor skeletal defects and mild facial dysmorphisms, some of whom have advanced bone age (BA), poor pubertal spurt and early growth cessation as well as precocious osteoarthritis.

Design And Methods: This study involves clinical and genetic characterization of 16 probands with heterozygous ACAN variants, 14 with short stature and mild skeletal defects (group 1) and two with SEDK (group 2).

Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association.

Background: The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized. We describe the first case of this unusual association diagnosed in the neonatal period, the clinical findings and the molecular studies undertaken.