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Papers by Margarita Craen

Research paper thumbnail of Macrosomy Despite Well-Controlled Diabetic Pregnancy

Research paper thumbnail of Disproportion and dysmorphism in an adult Belgian population with Turner syndrome: risk factors for chronic diseases?

Acta Clinica Belgica, 2019

Background: Turner syndrome (TS) is characterized by dysmorphism and body disproportion. TS women... more Background: Turner syndrome (TS) is characterized by dysmorphism and body disproportion. TS women are also susceptible to a range of chronic disorders including arterial hypertension (AHT), osteoporosis, sensorineural hearing loss (SNHL), type 2 diabetes mellitus (DM2) and thyroid disease. The association between dysmorphism/body disproportion and chronic disease has never been studied in TS women. The effect of growth hormone treatment on body disproportion is also unclear. Objectives: to analyze dysmorphic features and body disproportion in TS women in relation to the presence of chronic disease and to document the effect of growth hormone therapy on body disproportion. Method: 76 adult TS women with a regular follow up at the TS clinic UZ Ghent were invited to participate. Detailed body measurements were performed in 44 volunteering TS women. Scoring systems for overall dysmorphism, craniofacial dysmorphism, thoracic and limb abnormalities and skeletal disproportion were developed. Results: TS women with a higher dysmorphism score were more at risk for AHT (p = 0.04) as well as those with a higher sitting height/standing height ratio (p < 0.05). Prevalence of AHT, osteoporosis and DM 2 was lower in TS women treated with GH during childhood (p < 0.05). Conclusions: Adult TS women with relatively short legs or with more physical dysmorphic stigmata were more at risk for AHT. GH therapy does not seem to increase the risk of chronic disease on the long term.

Research paper thumbnail of 35th Annual Meeting of the European Association for the Study of Diabetes

Research paper thumbnail of Yearbook of Pediatric Endocrinology 2006

Acta Clinica Belgica, Feb 1, 2007

Research paper thumbnail of Een nieuw postgraduaat GGS-programma in jeugdgezondheidszorg voor sociaal-geneeskundigen in Vlaanderen

Research paper thumbnail of On the variability of the Brachmann-de Lange syndrome in seven patients

American journal of medical genetics, Nov 15, 1993

The results of the clinical a n d radiographic study of 7 patients support the view of a unimodal... more The results of the clinical a n d radiographic study of 7 patients support the view of a unimodal and rather narrow phenotypic spectrum in the Brachmann-de Lange syndrome (BDLS) and reject the existence of a "classic" type of patient and a "mild phenotype" without upper limb defects who survive with moderate to severe mental retardation. Similarity among all patients is greater than their phenotypic differences. Strict clinical definition of the syndrome warrants easier access to the still unknown cause, most probably a single gene mutation with autosomal dominant inheritance. o 1993 Wiey-Liss, Inc.

Research paper thumbnail of Evolution of Bone Mass and Body Composition in Gender Dysphoric Adolescents Treated with Progestins to Suppress Endogenous Hormones

55th Annual ESPE, Aug 19, 2016

Research paper thumbnail of Clinical phenotype in noonan syndrome patients with SOS1 mutations

Research paper thumbnail of Diabetes mellitus in children and adolescents

Acta paediatrica Belgica, 1981

Until recently, diabetes in children was virtually synonymous with type 1 diabetes mellitus, wher... more Until recently, diabetes in children was virtually synonymous with type 1 diabetes mellitus, whereas type 2 diabetes was a disease of middle age and the elderly. Over the past 10-20 years, an alarming increase in the prevalence of type 2 diabetes has been reported from pediatric diabetes centers in North America and elsewhere in the world. Lifestyle factors responsible for the worldwide epidemic of overweight and obesity are responsible for the increase in the prevalence of type 2 diabetes in adults and children. This article briefly discusses the diagnosis and major types of diabetes in children but focuses on aspects of type 2 diabetes in children and adolescents, including demographics, pathophysiology, clinical presentation, screening, prevention and treatment. The identification of children at risk for type 2 diabetes and the implementation of community-wide preventive programs will be essential to reverse the tide. The availability of calorie dense &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;fast foods,&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot; candy, and sugared soft drinks must be restricted in schools and other venues frequented by children. Parents must limit the amount of time their children spend watching television and playing computer games. After-school programs that promote physical activity should be a priority of local and central governmental agencies. Prevention will only succeed if governments and local communities recognize that childhood obesity is an important public health problem and provide an environment that promotes changes in lifestyle that prevent and reverse obesity.

Research paper thumbnail of A case of malignant hepatoma with precocious puberty

Research paper thumbnail of Ophthalmologic and systemic features of the Alström syndrome: report of 9 cases

PubMed, 2001

The Alström syndrome is a rare autosomal recessive disorder characterized by pigmentary retinopat... more The Alström syndrome is a rare autosomal recessive disorder characterized by pigmentary retinopathy, diabetes mellitus, sensorineural deafness and obesity. A normal intelligence is often present. We report 9 patients.

Research paper thumbnail of 2 Factors Contributing to Impairment of Growth in Children with Acute Lymphoblastic Leukemia (All)

Pediatric Research, Oct 1, 1988

Research paper thumbnail of Short arm deletion of chromosome 12

Human Genetics, 1975

ABSTRACT

Research paper thumbnail of Neuropsychological study in treated thyroid dysgenesis

Pediatric Research, Nov 1, 1978

Neuropsychological assessment was carried out in 57 patients aged 3.0 to 17.5 years (mean 8.5) wi... more Neuropsychological assessment was carried out in 57 patients aged 3.0 to 17.5 years (mean 8.5) with thyroid dysgenesis under adequate long-term therapy. Starting age of hypothyroidism as estimated by bone age at diagnosis was prenatal in 32 cases, close to birth in 13 cases and postnatal of 1-12 months in 12 cases. Hypothyroidism of prenatal onset results in severe neuropsychological disorders and mental retardation if not treated early. Only some signs of &amp;amp;amp;amp;amp;amp;quot;minimal brain dysfunction&amp;amp;amp;amp;amp;amp;quot; which compensate with advancing age and normal IQ are found in these children if therapy is started before one month of age. Hypothyroidism starting at birth does not result in mental retardation but neuropsychological disorders are found. They are more frequent if treatment is started after 6 months of age. Children who become hypothyroid between 1 and 12 months of age are usually not mentally retarded and show minor neuropsychological disorders.

Research paper thumbnail of Assessment of gonadotrophin deficiency in pituitary dwarfism

Pediatric Research, 1981

Reduction of the double stimuli h(H secretim tests. iouvain, ~n & e r~e n and Gent, ~e l s i d. A... more Reduction of the double stimuli h(H secretim tests. iouvain, ~n & e r~e n and Gent, ~e l s i d. Assessment of gonadotrophin deficiency in pituitary dwarfism. Fifty three patient8 with idiopathic (45) and organic (8) hyppituitarism. 43 boys and 10 girls, were studied during treatment with h a. The gonadotrophin responses to GnRH (25 ug/m2) and serum levels of DHEA-s were measured yearly ; 15 patients remained prepubertal whereas 38 patients were studied before and during puberty occuring either spontaneously (11) or induced (27) bytestosterone propionate (100 mg/mth) or ethinyloestradiol (10 ug/day) Conadarche and adrenarche were dissociated in some patients : among the I 1 patients with spontaneous gonadarche, 2 had no previous biological adrenarche ; among the 27 gonadotrophin deficient (G.D.) patients. 9 had spontaneous adrenarche. In prepubertal patients who were subsequently coqfirmed to be G.D., 27 GnRH tests were performed ; 23/27 integrated responses (I.R.) of PSH were found to be markedly lower than those observed in prepubertal controls of both sexes. In 9/27. I.R. of LH were

Research paper thumbnail of Combined approach of MLPA and array CGH for the identification of genomic rearrangements encompassing and located outside the SHOX transcription unit

Research paper thumbnail of Effects of Oral Treatment With Dheas in Girls With Hypopituitarism

Research paper thumbnail of Growth, sexual and bone development in a boy with bilateral anorchia under testosterone treatment guided by the development of his monozygotic twin

Journal of Pediatric Endocrinology and Metabolism, Jan 20, 2018

Background:Sex steroids are essential for sexual maturation, linear growth and bone development. ... more Background:Sex steroids are essential for sexual maturation, linear growth and bone development. However, there is no consensus on the optimal timing, dosage and dosage interval of testosterone therapy to induce pubertal development and achieve a normal adult height and bone mass in children with hypogonadism.Case presentation:A monozygotic monochorial male twin pair, of which one boy was diagnosed with anorchia at birth due to testicular regression syndrome was followed from the age of 3 until the age of 18 years. Low dose testosterone substitution (testosterone esters 25 mg/2 weeks) was initiated in the affected twin based on the start of pubertal development in the healthy twin and then gradually increased accordingly. Both boys were followed until age 18 and were compared as regards to linear growth, sexual maturation, bone maturation and bone development. Before puberty induction both boys had a similar weight and height. During puberty, a slightly faster weight and height gain was observed in the affected twin. Both boys ended up however, with a similar and normal (near) adult height and weight and experienced a normal development of secondary sex characteristics. At the age of 17 and 18 years, bone mineral density, body composition and volumetric bone parameters at the forearm and calf were evaluated in both boys. The affected boy had a higher lean mass and muscle cross-sectional area. The bone mineral density at the lumbar spine and whole body was similar. Trabecular and cortical volumetric bone parameters were comparable. At one cortical site (proximal radius), however, the affected twin had a smaller periosteal and endosteal circumference with a thicker cortex.Conclusions:In conclusion, a low dose testosterone substitution in bilateral anorchia led to a normal onset of pubertal development and (near) adult height. Furthermore, there was no difference in bone mineral density at the age of 17 and 18 years.

Research paper thumbnail of Evaluation and significance of the degree of pituitary-gonadal inhibition during intranasal administration of buserelin

European journal of endocrinology, Dec 1, 1987

Research paper thumbnail of Yearbook of Pediatric Endocrinology 2006

Acta Clinica Belgica, 2007

Research paper thumbnail of Macrosomy Despite Well-Controlled Diabetic Pregnancy

Research paper thumbnail of Disproportion and dysmorphism in an adult Belgian population with Turner syndrome: risk factors for chronic diseases?

Acta Clinica Belgica, 2019

Background: Turner syndrome (TS) is characterized by dysmorphism and body disproportion. TS women... more Background: Turner syndrome (TS) is characterized by dysmorphism and body disproportion. TS women are also susceptible to a range of chronic disorders including arterial hypertension (AHT), osteoporosis, sensorineural hearing loss (SNHL), type 2 diabetes mellitus (DM2) and thyroid disease. The association between dysmorphism/body disproportion and chronic disease has never been studied in TS women. The effect of growth hormone treatment on body disproportion is also unclear. Objectives: to analyze dysmorphic features and body disproportion in TS women in relation to the presence of chronic disease and to document the effect of growth hormone therapy on body disproportion. Method: 76 adult TS women with a regular follow up at the TS clinic UZ Ghent were invited to participate. Detailed body measurements were performed in 44 volunteering TS women. Scoring systems for overall dysmorphism, craniofacial dysmorphism, thoracic and limb abnormalities and skeletal disproportion were developed. Results: TS women with a higher dysmorphism score were more at risk for AHT (p = 0.04) as well as those with a higher sitting height/standing height ratio (p < 0.05). Prevalence of AHT, osteoporosis and DM 2 was lower in TS women treated with GH during childhood (p < 0.05). Conclusions: Adult TS women with relatively short legs or with more physical dysmorphic stigmata were more at risk for AHT. GH therapy does not seem to increase the risk of chronic disease on the long term.

Research paper thumbnail of 35th Annual Meeting of the European Association for the Study of Diabetes

Research paper thumbnail of Yearbook of Pediatric Endocrinology 2006

Acta Clinica Belgica, Feb 1, 2007

Research paper thumbnail of Een nieuw postgraduaat GGS-programma in jeugdgezondheidszorg voor sociaal-geneeskundigen in Vlaanderen

Research paper thumbnail of On the variability of the Brachmann-de Lange syndrome in seven patients

American journal of medical genetics, Nov 15, 1993

The results of the clinical a n d radiographic study of 7 patients support the view of a unimodal... more The results of the clinical a n d radiographic study of 7 patients support the view of a unimodal and rather narrow phenotypic spectrum in the Brachmann-de Lange syndrome (BDLS) and reject the existence of a "classic" type of patient and a "mild phenotype" without upper limb defects who survive with moderate to severe mental retardation. Similarity among all patients is greater than their phenotypic differences. Strict clinical definition of the syndrome warrants easier access to the still unknown cause, most probably a single gene mutation with autosomal dominant inheritance. o 1993 Wiey-Liss, Inc.

Research paper thumbnail of Evolution of Bone Mass and Body Composition in Gender Dysphoric Adolescents Treated with Progestins to Suppress Endogenous Hormones

55th Annual ESPE, Aug 19, 2016

Research paper thumbnail of Clinical phenotype in noonan syndrome patients with SOS1 mutations

Research paper thumbnail of Diabetes mellitus in children and adolescents

Acta paediatrica Belgica, 1981

Until recently, diabetes in children was virtually synonymous with type 1 diabetes mellitus, wher... more Until recently, diabetes in children was virtually synonymous with type 1 diabetes mellitus, whereas type 2 diabetes was a disease of middle age and the elderly. Over the past 10-20 years, an alarming increase in the prevalence of type 2 diabetes has been reported from pediatric diabetes centers in North America and elsewhere in the world. Lifestyle factors responsible for the worldwide epidemic of overweight and obesity are responsible for the increase in the prevalence of type 2 diabetes in adults and children. This article briefly discusses the diagnosis and major types of diabetes in children but focuses on aspects of type 2 diabetes in children and adolescents, including demographics, pathophysiology, clinical presentation, screening, prevention and treatment. The identification of children at risk for type 2 diabetes and the implementation of community-wide preventive programs will be essential to reverse the tide. The availability of calorie dense &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;fast foods,&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot; candy, and sugared soft drinks must be restricted in schools and other venues frequented by children. Parents must limit the amount of time their children spend watching television and playing computer games. After-school programs that promote physical activity should be a priority of local and central governmental agencies. Prevention will only succeed if governments and local communities recognize that childhood obesity is an important public health problem and provide an environment that promotes changes in lifestyle that prevent and reverse obesity.

Research paper thumbnail of A case of malignant hepatoma with precocious puberty

Research paper thumbnail of Ophthalmologic and systemic features of the Alström syndrome: report of 9 cases

PubMed, 2001

The Alström syndrome is a rare autosomal recessive disorder characterized by pigmentary retinopat... more The Alström syndrome is a rare autosomal recessive disorder characterized by pigmentary retinopathy, diabetes mellitus, sensorineural deafness and obesity. A normal intelligence is often present. We report 9 patients.

Research paper thumbnail of 2 Factors Contributing to Impairment of Growth in Children with Acute Lymphoblastic Leukemia (All)

Pediatric Research, Oct 1, 1988

Research paper thumbnail of Short arm deletion of chromosome 12

Human Genetics, 1975

ABSTRACT

Research paper thumbnail of Neuropsychological study in treated thyroid dysgenesis

Pediatric Research, Nov 1, 1978

Neuropsychological assessment was carried out in 57 patients aged 3.0 to 17.5 years (mean 8.5) wi... more Neuropsychological assessment was carried out in 57 patients aged 3.0 to 17.5 years (mean 8.5) with thyroid dysgenesis under adequate long-term therapy. Starting age of hypothyroidism as estimated by bone age at diagnosis was prenatal in 32 cases, close to birth in 13 cases and postnatal of 1-12 months in 12 cases. Hypothyroidism of prenatal onset results in severe neuropsychological disorders and mental retardation if not treated early. Only some signs of &amp;amp;amp;amp;amp;amp;quot;minimal brain dysfunction&amp;amp;amp;amp;amp;amp;quot; which compensate with advancing age and normal IQ are found in these children if therapy is started before one month of age. Hypothyroidism starting at birth does not result in mental retardation but neuropsychological disorders are found. They are more frequent if treatment is started after 6 months of age. Children who become hypothyroid between 1 and 12 months of age are usually not mentally retarded and show minor neuropsychological disorders.

Research paper thumbnail of Assessment of gonadotrophin deficiency in pituitary dwarfism

Pediatric Research, 1981

Reduction of the double stimuli h(H secretim tests. iouvain, ~n & e r~e n and Gent, ~e l s i d. A... more Reduction of the double stimuli h(H secretim tests. iouvain, ~n & e r~e n and Gent, ~e l s i d. Assessment of gonadotrophin deficiency in pituitary dwarfism. Fifty three patient8 with idiopathic (45) and organic (8) hyppituitarism. 43 boys and 10 girls, were studied during treatment with h a. The gonadotrophin responses to GnRH (25 ug/m2) and serum levels of DHEA-s were measured yearly ; 15 patients remained prepubertal whereas 38 patients were studied before and during puberty occuring either spontaneously (11) or induced (27) bytestosterone propionate (100 mg/mth) or ethinyloestradiol (10 ug/day) Conadarche and adrenarche were dissociated in some patients : among the I 1 patients with spontaneous gonadarche, 2 had no previous biological adrenarche ; among the 27 gonadotrophin deficient (G.D.) patients. 9 had spontaneous adrenarche. In prepubertal patients who were subsequently coqfirmed to be G.D., 27 GnRH tests were performed ; 23/27 integrated responses (I.R.) of PSH were found to be markedly lower than those observed in prepubertal controls of both sexes. In 9/27. I.R. of LH were

Research paper thumbnail of Combined approach of MLPA and array CGH for the identification of genomic rearrangements encompassing and located outside the SHOX transcription unit

Research paper thumbnail of Effects of Oral Treatment With Dheas in Girls With Hypopituitarism

Research paper thumbnail of Growth, sexual and bone development in a boy with bilateral anorchia under testosterone treatment guided by the development of his monozygotic twin

Journal of Pediatric Endocrinology and Metabolism, Jan 20, 2018

Background:Sex steroids are essential for sexual maturation, linear growth and bone development. ... more Background:Sex steroids are essential for sexual maturation, linear growth and bone development. However, there is no consensus on the optimal timing, dosage and dosage interval of testosterone therapy to induce pubertal development and achieve a normal adult height and bone mass in children with hypogonadism.Case presentation:A monozygotic monochorial male twin pair, of which one boy was diagnosed with anorchia at birth due to testicular regression syndrome was followed from the age of 3 until the age of 18 years. Low dose testosterone substitution (testosterone esters 25 mg/2 weeks) was initiated in the affected twin based on the start of pubertal development in the healthy twin and then gradually increased accordingly. Both boys were followed until age 18 and were compared as regards to linear growth, sexual maturation, bone maturation and bone development. Before puberty induction both boys had a similar weight and height. During puberty, a slightly faster weight and height gain was observed in the affected twin. Both boys ended up however, with a similar and normal (near) adult height and weight and experienced a normal development of secondary sex characteristics. At the age of 17 and 18 years, bone mineral density, body composition and volumetric bone parameters at the forearm and calf were evaluated in both boys. The affected boy had a higher lean mass and muscle cross-sectional area. The bone mineral density at the lumbar spine and whole body was similar. Trabecular and cortical volumetric bone parameters were comparable. At one cortical site (proximal radius), however, the affected twin had a smaller periosteal and endosteal circumference with a thicker cortex.Conclusions:In conclusion, a low dose testosterone substitution in bilateral anorchia led to a normal onset of pubertal development and (near) adult height. Furthermore, there was no difference in bone mineral density at the age of 17 and 18 years.

Research paper thumbnail of Evaluation and significance of the degree of pituitary-gonadal inhibition during intranasal administration of buserelin

European journal of endocrinology, Dec 1, 1987

Research paper thumbnail of Yearbook of Pediatric Endocrinology 2006

Acta Clinica Belgica, 2007