A5063096363- Growth Hormone and Insulin-like Growth Factors
- Sexual Differentiation and Disorders
- Birth, Development, and Health
- Hypothalamic control of reproductive hormones
- Thyroid Disorders and Treatments
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Childhood Cancer Survivors' Quality of Life
- Genetic Syndromes and Imprinting
- Genomic variations and chromosomal abnormalities
- Hematopoietic Stem Cell Transplantation
- Congenital heart defects research
- Ovarian function and disorders
- Hormonal and reproductive studies
- Neonatal Respiratory Health Research
- Cancer, Hypoxia, and Metabolism
- Connective tissue disorders research
- Reproductive Biology and Fertility
- Child and Adolescent Health
- Child Nutrition and Feeding Issues
- Neuroscience of respiration and sleep
- Obesity, Physical Activity, Diet
- Prenatal Screening and Diagnostics
- Lipid metabolism and disorders
- Adrenal Hormones and Disorders
- Pituitary Gland Disorders and Treatments
Leiden University
2005-2023
Leiden University Medical Center
2012-2021
Willem-Alexander Kinderziekenhuis
2012-2021
Erasmus University Rotterdam
1982-2016
University of Groningen
2015
Erasmus MC - Sophia Children’s Hospital
1999-2015
Pediatrics and Genetics
2007-2015
Loyola University Medical Center
2012
University of Liverpool
2003
Kiel University
2003
Androgen insensitivity syndrome encompasses a wide range of phenotypes, which are caused by numerous different mutations in the AR gene. Detailed information on genotype/phenotype relationship androgen is important for sex assignment, treatment patients, genetic counseling their families, and insight into functional domains AR. The commonly accepted concept dependence fetal androgens development Wolffian ducts was studied complete (CAIS) patients. In nationwide survey Netherlands, all cases...
Abstract Background: Knowledge about the effects of GH treatment on cognitive functioning in children with Prader-Willi syndrome (PWS) is limited. Methods: Fifty prepubertal aged 3.5 to 14 yr were studied a randomized controlled trial during 2 yr, followed by longitudinal study 4 treatment. Cognitive was measured biennially short forms WPPSI-R or WISC-R, depending age. Total IQ (TIQ) score estimated based two subtest scores. Results: During trial, mean sd scores all subtests and TIQ remained...
The most important reason for treating children with Prader-Willi syndrome (PWS) GH is to optimize their body composition.The aim of this ongoing study was determine whether long-term treatment can counteract the clinical course increasing obesity in PWS by maintaining improved composition brought during early treatment.This a multicenter prospective cohort study.We have been following 60 prepubertal 8 years continuous (1 mg/m(2)/d ≈ 0.035 mg/kg/d) and used same dual-energy x-ray...
To study the resumption of puberty and final height achieved in children with central precocious (CPP) treated GnRH agonist triptorelin.31 girls five boys CPP who were triptorelin 3.75 mg intramuscularly every four weeks. Girls for a mean (SD) 3.4 (1.0) years followed up 4.0 (1.2) after treatment was stopped.The rate bone maturation decreased during predicted adult increased from 158.2 (7.4) cm to 163.9 (7.5) at end (p < 0.001). When stopped accelerated, resulting 161.6 (7.0) cm, which...
Ig superfamily member 1 (IGSF1) deficiency was recently discovered as a novel X-linked cause of central hypothyroidism (CeH) and macro-orchidism. However, clinical biochemical data regarding growth, puberty, metabolic outcome, well features female carriers, are scarce. Our objective to investigate characteristics associated with IGSF1 in both sexes. All patients (n = 42, 24 males) from 10 families examined the university clinics Leiden, Amsterdam, Cambridge, Milan were included this case...
C-type natriuretic peptide (CNP)/natriuretic receptor 2 (NPR2) signaling is essential for long bone growth. Enhanced CNP production caused by chromosomal translocations results in tall stature, a Marfanoid phenotype, and skeletal abnormalities. A similar phenotype was described family with an activating NPR2 mutation within the guanylyl cyclase domain.Here we describe extremely male without deformities, novel (p.Arg655Cys) located kinase homology domain.The objective of study to investigate...
Isolated congenital central hypothyroidism (CeH) can result from mutations in TRHR, TSHB, and IGSF1, but its etiology often remains unexplained. We identified a missense mutation the transducin β-like protein 1, X-linked (TBL1X) gene three relatives diagnosed with isolated CeH. TBL1X is part of thyroid hormone receptor-corepressor complex. The objectives study were identification patients unexplained CeH, Sanger sequencing affected individuals, clinical biochemical characterization; vitro...
GH treatment is effective in improving height short children born small for gestational age (SGA). thought to have limited effect when started during adolescence. The aim of this study was investigate efficacy SGA adolescence; assess whether 2 mg/m2 · d puberty improves adult (AH) compared with 1 d; and an additional 2-yr postponement by GnRH analog (GnRHa) AH who are at the start (<140 cm), a poor expectation. In longitudinal, randomized, dose-response trial, we included 121 (60 boys) least...
Abstract Context: Mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene cause X-linked IGSF1 deficiency syndrome consisting of central hypothyroidism, delayed pubertal testosterone rise, adult macroorchidism, variable prolactin deficiency, and occasionally transient partial GH deficiency. Since our first reports, we discovered 20 new families with 18 pathogenic mutations. Objective: We aimed to share data on largest cohort patients date formulate recommendations for clinical...
Context: PAPSS2 (PAPS synthase 2) provides the universal sulfate donor PAPS (3′-phospho-adenosine-5′-phosphosulfate) to all human sulfotransferases, including SULT2A1, responsible for sulfation of crucial androgen precursor dehydroepiandrosterone (DHEA). Impaired DHEA is thought increase conversion toward active androgens, a proposition supported by previous report girl with inactivating mutations who presented low serum and excess, clinically manifesting premature pubarche early-onset...
Abstract Aim Accurate calculations of testicular volume standard deviation ( SD ) scores are not currently available. We constructed LMS ‐smoothed age‐reference charts for in healthy boys. Methods The method was used to calculate reference data, based on volumes from ultrasonography and Prader orchidometer 769 Dutch boys aged 6 months 19 years. also explored the association between growth pubic hair development, data were compared orchidometric 1997 nationwide study. Results showed that no...
<h3>Objective:</h3> To establish evidence-based guidelines for growth monitoring on a population basis. <h3>Study design:</h3> Several auxological referral criteria were formulated and applied to longitudinal data from four different patient groups, as well three samples the general population. <h3>Results:</h3> Almost 30% of pathology can be detected by height standard deviation score (HSDS) below −3 or at least two observations HSDS −2.5 low false-positive rate (<1%) in 0–3-year-old...
22q11.2 deletion syndrome is one of the most common microdeletion syndromes. Most patients have a resulting from recombination low copy repeat blocks LCR22‐A and LCR22‐D. Loss TBX1 gene considered important cause phenotype. A limited number with smaller, overlapping deletions distal to TBX 1 locus been described in literature. In these patients, CRKL deleted. Haploinsufficiency this has also implicated pathogenesis syndrome. To distinguish (comprising LCR22‐B LCR22‐D region) more (located...
The phenotype and response to GH treatment of children with an IGF1R defect is insufficiently known. To develop a clinical score for selecting short stature genetic testing evaluate the efficacy treatment. Case series identified in university laboratory. Of all patients sufficient data, 18 had (likely) pathogenic mutations (group 1) 7 15q deletions including 2); 19 were treated GH. Phenotype In groups 1 2, mean (range) birth weight, length, head circumference (HC) SD scores (SDSs) −2.1 (−3.7...
Based on a recent Dutch national guideline, we propose structured stepwise diagnostic approach for children with growth failure (short stature and/or faltering), aiming at high sensitivity pathologic causes acceptable specificity. The first step is detailed clinical assessment, obtaining relevant clues from the medical history (including family history), physical examination (emphasising head circumference, body proportions and dysmorphic features) assessment of curve. second consists...