Monique A M de Vroede

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Background: Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is a heterogeneous condition. A number of children have focal lesions, and removal of these lesions is curative. However, these lesions are difficult to detect, even during surgery. A laparoscopic approach is beneficial. Methods: Two children with PHHI underwent laparoscopic pancreatic(More)
The Wolf–Hirschhorn syndrome (WHS (MIM 194190)), which is characterized by growth delay, mental retardation, epilepsy, facial dysmorphisms, and midline fusion defects, shows extensive phenotypic variability. Several of the proposed mutational and epigenetic mechanisms in this and other chromosomal deletion syndromes fail to explain the observed phenotypic(More)
IGF-I and IGF-II are highly homologous to each other and to proinsulin. Although the IGFs and insulin have similar biological activities and receptor reactivity, IGF carrier proteins and one subtype of IGF receptors (Type II) interact exclusively with the IGFs and not with insulin. To determine the structural basis for this specificity, we have prepared 3(More)
A 13-year-old phenotypically female patient presented with short stature (height SDS –2.6), but without any Turner stigmata or other dysmorphic features. Chromosome analysis showed mosaicism for an isodicentric (idic) (Y)(q11.23) containing cell line and a 45,X cell line. Subsequent gonadectomy revealed a left streak ovary and a right ovary of abnormal(More)
An 11 year old girl presented with short stature. Panhypopituitarism was diagnosed and replacement therapy was started with thyroxine, cortisol, and growth hormone treatment, which resulted in catch-up growth. We obtained the following hormonal data: 1) undetectable growth hormone secretion after arginine-insulin (<0.8 ng/ml), 2) no prolactin rise after TRF(More)
Growth retardation is a consistent finding in Williams-Beuren syndrome. The cause of short stature in this syndrome is unknown. Endocrine studies have failed to reveal abnormalities in the growth hormone – insulin-like growth factor I axis. We report a boy with confirmed Williams-Beuren syndrome, who was found to have classical growth hormone deficiency and(More)
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