Corrigendum to "Benign course after acute high dose levothyroxine intoxication in a 3-year-old boy".

[This corrects the article DOI: 10.1297/cpe.26.

Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.

Noonan syndrome (NS) is an autosomal dominant multisystem condition with a variable phenotype. The most characteristic features are short stature, congenital heart defects, and recognizable facial features. Mutations in SOS1 are found in 10-20% of patients with NS.

Benign course after acute high dose levothyroxine intoxication in a 3-year-old boy.

Acute ingestion of thyroid hormone preparations is a common intoxication, with 181 cases in children <12 yr in 2009 in the Netherlands, but generally has a mild course. However, some reports show that even low dosages may cause serious events such as seizures, thyroid storm and coma. We report a 3 yr old boy case with an acute intoxication with high dose levothyroxine (0.

Perceived motor problems in daily life: Focus group interviews with people with Noonan syndrome and their relatives.

Studies from a patient perspective on motor performance problems in Noonan syndrome in daily life are lacking. The aims of this study were to provide insight into the motor performance problems that people with Noonan syndrome and/or their relatives experienced, the major consequences they suffered, the benefits of interventions they experienced, and the experiences with healthcare professionals they mentioned. We interviewed 10 adults with Noonan syndrome (two were joined by their parent), and 23 mothers (five of whom had Noonan syndrome), nine fathers (one of whom had Noonan syndrome) and one cousin who reported on 28 children with Noonan syndrome.

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

Noonan syndrome (NS) is characterized by short stature, facial dysmorphisms and congenital heart defects. PTPN11 mutations are the most common cause of NS. Patients with NS have a predisposition for leukemia and certain solid tumors.

Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma.

Noonan Syndrome (NS) is an autosomal dominant condition characterized by short stature, facial dysmorphisms, and congenital heart defects, and is caused by mutations in either PTPN11, KRAS, NRAS, SHOC2, RAF1, or SOS1. Furthermore, NS is known for its predisposition to develop cancer, particularly hematological malignancies and specific solid tumors, mainly neuroblastoma and embryonal rhabdomyosacroma (ERMS). Until recently, however, cancer predisposition in NS patients with SOS1 mutations was not reported.

Spinal stenosis with paraparesis in albright hereditary osteodystrophy. Case report and review of the literature.

We describe thoracic spinal stenosis with progressive myelopathy in association with Albright hereditary osteodystrophy (AHO) in a 12-year-old child with delayed diagnosis and review the relevant literature in order to identify the pathophysiological mechanism. The child was successfully treated by decompressive upper thoracic laminoplasty with full neurological recovery. The pathological changes of the skin also dissolved.

Expanding the genetic spectrum of Noonan syndrome.

Background: The autosomal-dominant Noonan syndrome (MIM 163950) is characterized by short stature, typical facial dysmorphology and heart defects. Noonan syndrome is genetically heterogeneous. Over the last few years, germline mutations in four genes have been found in people with clinical signs of Noonan syndrome, accounting for approximately 65% of cases.

Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation.

Congenital diaphragmatic hernia (CDH) is a disorder of the development of the lung and diaphragm and is associated with pulmonary hypoplasia and pulmonary hypertension. Denys-Drash syndrome (DDS) is a well-known syndrome caused by several different germline mutations in the WT1-gene. CDH in DDS is rare.

Growth hormone producing prolactinoma in juvenile cystinosis: a simple coincidence?

Juvenile cystinosis was diagnosed in a patient who presented with severe headache attacks and photophobia. Treatment with oral cysteamine and topical cysteamine eye drops was started. One-and-a-half years later, he developed unilateral gynecomastia and elevated prolactin and growth hormone levels.

High serum levels of growth hormone (GH) and insulin-like growth factor-I (IGF-I) during high-dose GH treatment in short children born small for gestational age.

Context: Epidemiological studies have indicated that high serum levels of GH and IGF-I are associated with long-term risks.

Objective: The objective of the study was to evaluate the changes in serum levels of GH during overnight profiles, IGF-I, and IGF binding protein 3 (IGFBP-3) in short small for gestational age (SGA) children during GH treatment with two doses.

Patients: Thirty-six prepubertal short SGA children were the subjects of this study.

Absence of increased height velocity in the first year of life in untreated children with simple virilizing congenital adrenal hyperplasia.

Context: In congenital adrenal hyperplasia (CAH), elevation of adrenal androgens leads to accelerated growth and bone maturation with compromised adult height.

Objective/patients: The objective of the study was to analyze retrospectively early growth and bone maturation in 17 untreated simple virilizing (SV) CAH patients.

Setting: The study was conducted at Radboud University Nijmegen Medical Centre.

Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.

Noonan syndrome (NS) is an autosomal dominant disorder, characterized by short stature, minor facial anomalies, and congenital heart defects. In approximately 50% of cases the condition is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the protein SHP-2. In this study, PTPN11 mutation analysis was performed in 170 NS patients.

Genetics and variation in phenotype in Noonan syndrome.

Noonan syndrome is a well-known clinical entity comprising multiple congenital anomalies characterized by typical facial features, short stature and congenital heart defect. Approximately 50% of cases are sporadic. Familial cases are generally autosomal dominant.

Quantitative calcaneal ultrasound parameters and bone mineral density at final height in girls treated with depot gonadotrophin-releasing hormone agonist for central precocious puberty or idiopathic short stature.

Unlabelled: To evaluate the effect of gonadotrophin-releasing hormone (GnRH) agonist treatment on bone quality at final height, we studied girls with central precocious puberty (CPP) and with idiopathic short stature (ISS). A total of 25 Caucasian girls were included: group A (n=14) with idiopathic CPP (mean age at start 7.4 years) and group B (n=11) with ISS (mean age at start 11.

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.

Glucokinase (GCK) is a key regulatory enzyme in the pancreatic beta-cell and catalyzes the rate-limiting step for beta-cell glucose metabolism. We report two novel GCK mutations (T65I and W99R) that have arisen de novo in two families with familial hypoglycemia. Insulin levels, although inappropriately high for the degree of hypoglycemia, remain regulated by fluctuations in glycemia, and pancreatic histology was normal.

The relationship between clinical severity of Noonan's syndrome and growth, growth hormone (GH) secretion and response to GH treatment.

Short stature is one of the major features of Noonan's syndrome (NS). In a multicentre trial of growth hormone (GH) therapy in 25 children with NS, we observed a large inter-individual variation in first-year response to GH treatment. This suggested that subgroups might exist in NS that differ in either endogenous GH status or responsiveness to GH therapy.