[A monogenetic disorder instead of type 1 diabetes].

Background: Transient Neonatal Diabetes Mellitus (TNDM) is a rare monogenetic disorder characterized by impaired insulin secretion occurring in the first weeks after birth. TNDM goes into remission after a few weeks to months. However, a large number of children develop non-insulin-dependent DM during puberty.

Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia.

Background: In 2002, a nationwide screening for congenital adrenal hyperplasia (CAH) was introduced in the Netherlands. The aim of our study is to evaluate the validity of the neonatal screening for CAH and to assess how many newborns with salt-wasting (SW) CAH have already been clinically diagnosed before the screening result was known.

Methods: Retrospective, descriptive study.

Long-term follow-up after bilateral percutaneous epiphysiodesis around the knee to reduce excessive predicted final height.

Context: Percutaneous epiphysiodesis (PE) around the knee to reduce predicted excessive final height. Studies until now included small numbers of patients and short follow-up periods.

Objective And Design: This Dutch multicentre, long-term, retrospective, follow-up study aimed to assess adult height (AH), complications, knee function and patient satisfaction after PE.

ACAN Gene Mutations in Short Children Born SGA and Response to Growth Hormone Treatment.

Background: Some children born small for gestational age (SGA) show advanced bone age (BA) maturation during growth hormone (GH) treatment. ACAN gene mutations have been described in children with short stature and advanced BA.

Objective: To determine the presence of ACAN gene mutations in short SGA children with advanced BA and assess the response to GH treatment.

Metabolic Health in Short Children Born Small for Gestational Age Treated With Growth Hormone and Gonadotropin-Releasing Hormone Analog: Results of a Randomized, Dose-Response Trial.

Context: Previously we showed that pubertal children born small for gestational age (SGA) with a poor adult height (AH) expectation can benefit from treatment with GH 1 mg/m(2) per day (∼ 0.033 mg/kg/d) in combination with 2 years of GnRH analog (GnRHa) and even more so with a double GH dose. GnRHa treatment is thought to have negative effects on body composition and blood pressure.

Bone mineral density in children and adolescents with Prader-Willi syndrome: a longitudinal study during puberty and 9 years of growth hormone treatment.

Context: Longitudinal data on bone mineral density (BMD) in children and adolescents with Prader-Willi Syndrome (PWS) during long-term GH treatment are not available.

Objective: This study aimed to determine effects of long-term GH treatment and puberty on BMD of total body (BMDTB), lumbar spine (BMDLS), and bone mineral apparent density of the lumbar spine (BMADLS) in children with PWS.

Design And Setting: This was a prospective longitudinal study of a Dutch PWS cohort.

New insights into factors influencing adult height in short SGA children: Results of a large multicentre growth hormone trial.

Background: Growth hormone (GH) treatment is effective in improving adult height (AH) in short children born SGA. However, there is a wide variation in height gain, even after adjustment for predictive variables. It is therefore important to investigate new factors which can influence the response to GH.

Goal disturbance and coping in children with type I diabetes mellitus: relationships with health-related quality of life and A1C.

Objective: Our first objective was to compare the health-related quality of life (HRQoL) of children with type 1 diabetes mellitus (8-12 years) with that of a healthy reference group, and to compare glycated hemoglobin (A1C) values of these children to recommended guidelines. Our second objective was to examine how goal disturbance and coping behaviour were related to HRQoL and A1C.

Method: Forty-three children, 8-12 years of age, completed a set of questionnaires that assessed generic and diabetes-specific HRQoL, goal disturbance and coping behaviour.

Eight years of growth hormone treatment in children with Prader-Willi syndrome: maintaining the positive effects.

Background: The most important reason for treating children with Prader-Willi syndrome (PWS) with GH is to optimize their body composition.

Objectives: The aim of this ongoing study was to determine whether long-term GH treatment can counteract the clinical course of increasing obesity in PWS by maintaining the improved body composition brought during early treatment.

Setting: This was a multicenter prospective cohort study.

Adult height in short children born SGA treated with growth hormone and gonadotropin releasing hormone analog: results of a randomized, dose-response GH trial.

Context: GH treatment is effective in improving height in short children born small for gestational age (SGA). GH is thought to have limited effect when started during adolescence.

Objective: The aim of this study was to investigate GH treatment efficacy in short SGA children when treatment was started during adolescence; to assess whether GH 2 mg/m(2) · d during puberty improves adult height (AH) compared with 1 mg/m(2) · d; and to assess whether an additional 2-yr postponement of puberty by GnRH analog (GnRHa) improves AH in children who are short at the start of puberty (<140 cm), with a poor AH expectation.

Beneficial effects of growth hormone treatment on cognition in children with Prader-Willi syndrome: a randomized controlled trial and longitudinal study.

Background: Knowledge about the effects of GH treatment on cognitive functioning in children with Prader-Willi syndrome (PWS) is limited.

Methods: Fifty prepubertal children aged 3.5 to 14 yr were studied in a randomized controlled GH trial during 2 yr, followed by a longitudinal study during 4 yr of GH treatment.

Quality of the parent-child interaction in young children with type 1 diabetes mellitus: study protocol.

Background: In young children with type 1 diabetes mellitus (T1DM) parents have full responsibility for the diabetes-management of their child (e.g. blood glucose monitoring, and administering insulin).

Can one question be a useful indicator of psychosocial problems in adolescents with diabetes mellitus?

Aim: A screening tool for psychosocial functioning of adolescents with diabetes is unavailable. We investigated whether one question using a Visual Analogue Scale that indicates a rating from the worst (0) to the best possible life (10) is related to standardized indices of psychosocial functioning and well-being in adolescents with diabetes mellitus type 1 (T1DM).

Method: One hundred and fifty-one adolescents with T1DM and 122 healthy peers between 12 and 18 years of age were asked to rate their life on a scale, varying from 0 to 10.

High-dose GH treatment limited to the prepubertal period in young children with idiopathic short stature does not increase adult height.

Objective: To assess the long-term effect of prepubertal high-dose GH treatment on growth in children with idiopathic short stature (ISS).

Design And Methods: Forty children with no signs of puberty, age at start 4-8 years (girls) or 4-10 years (boys), height SDS <-2.0 SDS, and birth length >-2.

Efficacy and safety of oxandrolone in growth hormone-treated girls with turner syndrome.

Context And Objective: GH therapy increases growth and adult height in Turner syndrome (TS). The benefit to risk ratio of adding the weak androgen oxandrolone (Ox) to GH is unclear.

Design And Participants: A randomized, placebo-controlled, double-blind, dose-response study was performed in 10 centers in The Netherlands.

Phenotype-genotype correlation in a familial IGF1R microdeletion case.

Background: IGF1R (insulin-like growth factor 1 receptor) haploinsufficiency is a rare event causing difficulties in defining clear genotype-phenotype correlations, although short stature is its well established hallmark. Several pure 15q26 monosomies (n=22) have been described in the literature, including those with breakpoints proximal to the IGF1R gene. Clinical heterogeneity is characteristic for these mainly de novo telomeric deletions and is illustrated by the involvement of several different organ systems such as the heart, diaphragm, lungs, kidneys and limbs, besides growth failure in the patient's phenotype.

Hepatocyte nuclear factor (HNF)1A and HNF4A substitution occurring simultaneously in a family with maturity-onset diabetes of the young.

Introduction: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus characterized by an early age at onset, autosomal dominant inheritance and a primary defect in the function of the B-cells of the pancreas. We report a family with two members carrying a substitution in both the hepatocyte nuclear factor (HNF)1A and HNF4A gene simultaneously.

Case Report: A 39-year-old man was referred because of mild diabetic retinopathy.

Efficacy and safety of long-term continuous growth hormone treatment in children with Prader-Willi syndrome.

Background: Children with Prader-Willi syndrome (PWS) have abnormal body composition and impaired growth. Short-term GH treatment has beneficial effects.

Objectives: The aim of the study was to investigate effects of long-term continuous GH treatment on body composition, growth, bone maturation, and safety parameters.

Bone mineral density and effects of growth hormone treatment in prepubertal children with Prader-Willi syndrome: a randomized controlled trial.

Background: Bone mineral density (BMD) is unknown in children with Prader-Willi syndrome (PWS), but is decreased in adults with PWS. In patients with GH deficiency, BMD increases during GH treatment.

Objectives: The aim of the study was to evaluate BMD in children with PWS and to study the effects of GH treatment.

Overnight levels of luteinizing hormone, follicle-stimulating hormone and growth hormone before and during gonadotropin-releasing hormone analogue treatment in short boys born small for gestational age.

Aims: To evaluate if 3 months of gonadotropin-releasing hormone analogue (GnRHa) treatment results in sufficient suppression of pubertal luteinizing hormone (LH) and follicle-stimulating hormone (FSH) profile patterns in short pubertal small for gestational age (SGA) boys. To compare growth hormone (GH) profiles and fasting insulin-like growth factor (IGF)-I and IGF-binding protein-3 (IGFBP-3) levels after 3 months of GnRHa treatment with those at baseline.

Methods: After measurement of baseline overnight profiles and IGF-I and IGFBP-3 levels, 14 short pubertal SGA boys received leuprorelide acetate depots of 3.

Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1.

Objective: Autoimmune polyglandular syndrome type 1 (APS-1) is characterised by multiple autoimmune diseases. Detection of autoimmune regulator (AIRE) gene mutations facilitates timely and precise diagnosis.

Design: AIRE mutation detection was performed in a cohort of 11 patients.

Growth and final height after liver transplantation during childhood.

Objective: To evaluate the effect of end-stage pediatric liver disease and liver transplantation on growth and final height.

Patients And Methods: We evaluated growth at 2 years (n = 101) and 5 years (n = 63) after pediatric liver transplantation (LTx). Twenty-three children reached final height.

Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome.

Marfan syndrome (MFS) is known as an autosomal-dominant connective tissue disorder (MIM 154,700), involving primarily the skeletal, ocular and cardiovascular systems, and caused by mutations in the gene for fibrillin1 (FBN1). Here, we report on two cousins from a consanguineous family with a homozygous c.1,453C>T FBN1 mutation (p.

Long-term effects of growth hormone (GH) treatment on body composition and bone mineral density in short children born small-for-gestational-age: six-year follow-up of a randomized controlled GH trial.

Unlabelled: Context Alterations in the GH-IGF-I axis in short small-for-gestational-age (SGA) children might be associated with abnormalities in bone mineral density (BMD) and body composition. In addition, birth weight has been inversely associated with diabetes and cardiovascular disease in adult life. Data on detailed body composition in short SGA children and long-term effects of GH treatment are very scarce.