PubMed Health⌕ Search

Biomedical subjects

C Noordam

Publications and source records attributed to C Noordam.

At least 19 recordsLinked to original sources
PubMed2006

[Central congenital hypothyroidism due to Graves' disease in the mother].

Two male twins were born at a gestational age of 30 weeks. Five days after delivery, the mother was diagnosed with Graves' disease. The thyroid function in the neonates was therefore evaluated, which led to the detection of central congenital hypothyroidism (central CHT), even though the neonatal CHT-screening had been reported to be normal. Both boys were treated with thyroxine up to the age of nine months. It was then established that their development had been uneventful. Maternal Graves' disease can, due to the presence of anti-thyroid stimulating hormone (TSH) receptor antibodies and the maternal use of anti-thyroid drugs, result in thyroid dysfunction in the neonate. Neonates born to mothers with Graves' disease are at risk of developing central CHT. This occurs especially in children of mothers who are not treated or are inadequately treated during pregnancy. In view of the importance of thyroid hormone for brain development, children with central CHT are at risk for neurodevelopmental problems if thyroid dysfunction is not detected and treated early. The Dutch screening for congenital hypothyroidism is based on thyroxine (T4), TSH and thyroid-binding globulin. This makes it possible to detect central CHT. However, in prematurely born infants this disease may be missed because in this subgroup, referral is only based on increased TSH levels, which may not be present.

Adult↗
PubMed2006

Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development.

AIM: The transcription factor hepatocyte nuclear factor-1beta (HNF-1beta) is expressed in rodent pancreatic progenitor cells, where it is an important member of the genetic hierarchy that regulates the generation of pancreatic endocrine and exocrine cells. The recent description of an HNF-1beta mutation in a patient with neonatal diabetes suggests that HNF-1beta may also play a key role in human pancreatic B-cell development. We aimed to investigate the role of HNF-1beta mutations in neonatal diabetes and also the impact of HNF-1beta mutations on fetal growth. METHODS: We sequenced the HNF-1beta gene in 27 patients with neonatal diabetes in whom other known genetic aetiologies had been excluded. Birth weight was investigated in 21 patients with HNF-1beta mutations. RESULTS: A heterozygous HNF-1beta mutation, S148L, was identified in one patient with neonatal diabetes diagnosed at 17 days, which rapidly resolved only to relapse at 8 years. This patient had pancreatic atrophy, mild exocrine insufficiency and low birth weight (1.83 kg at 40 weeks' gestation). Intrauterine growth was markedly reduced in patients born to unaffected mothers with a median birth weight of 2.4 kg (range 1.8-3.3) (P = 0.006), median centile weight 3 (0.008-38), and 69% were small for gestational age. CONCLUSION: HNF-1beta mutations are a rare cause of neonatal diabetes as well as pancreatic exocrine and endocrine dysfunction. Low birth weight is a common feature of patients with HNF-1beta mutations and is consistent with reduced insulin secretion in utero. These findings support a key role for HNF-1beta in early pancreatic progenitor cells in man.

Birth Weight↗
PubMed2006

Treatment of tall stature in boys with somatostatin analogue 201-995: effect on final height.

BACKGROUND: An optimal treatment for tall stature in boys in terms of efficacy and safety is not available. Treatment with somatostatin analogue 201-995 (SMS) has been tried with positive short-term results. METHODS: We evaluated the effect of SMS treatment on reducing adult height. Over 2 years, 16 boys presenting to our university hospital with tall stature (constitutional tall stature (n = 13), Marfan syndrome (n = 2) and tethered spinal cord (n = 1)) with a predicted final height above 197 cm were included in the study and prospectively followed until final height was reached. As one boy was lost to follow-up we have reported on 15 boys. Treatment with SMS as a single subcutaneous dose was started and continued until final height was reached. In eight boys androgens were given to induce puberty after the start of SMS and five boys were on treatment with androgens prior to SMS treatment. Effect on reduction of final height prediction, calculated with the index of potential height based on the bone age of Greulich and Pyle, was the main outcome measure. Standard anthropometric assessments were performed a year before and every 3 months during treatment. Bone age was assessed by the method of Greulich and Pyle at the start and after 6 and 12 months. RESULTS: Mean reduction in final height prediction (predicted adult height minus achieved adult height) was -0.1 cm (range -6.4 to +5.7). In three boys, asymptomatic microlithiasis of the gall bladder was diagnosed. CONCLUSIONS: We have concluded that, in spite of encouraging short-term results, long-term treatment with SMS does not reduce final height in a manner sufficient to justify SMS treatment in tall stature.

Adolescent↗
PubMed2005

[A genetic childhood disease with consequences in adult life: the Denys-Drash syndrome].

In a 17-year-old woman with absent sexual development and a congenital nephrotic syndrome leading to renal failure, the Denys-Drash syndrome was diagnosed after development of an ovarian dysgerminoma. The Denys-Drash syndrome is characterised by the triad: progressive nephropathy due to diffuse mesangial sclerosis, male pseudo-hermaphroditism (XY karyotype with ambiguous or female genital organs) and an increased risk of developing Wilms' tumour and gonadoblastoma. The syndrome is generally caused by a genetic defect in the Wilms' tumour suppressor 1 gene (WT1 gene). A WT1 mutation and XY karyotype were also found in this patient. The WT1 gene encodes a transcription factor playing an important role in renal and genital development. The diagnosis of Denys-Drash syndrome had important consequences for the follow-up and treatment of the patient. The second gonad and the native kidneys were removed due to the increased risk of malignancy. Moreover, the finding of a XY karyotype could result in serious psychic problems. Physicians responsible for the health of adults are confronted more and more often with the consequences of childhood diseases. This case illustrates the necessity to inform such physicians about previously untreatable genetic diseases of childhood so that the adequate medical management of these patients can be guaranteed.

Adolescent↗
PubMed2004

Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.

Tpit is a T box transcription factor important for terminal differentiation of pituitary proopiomelanocortin-expressing cells. We demonstrated that human and mouse mutations of the TPIT gene cause a neonatal-onset form of congenital isolated ACTH deficiency (IAD). In the absence of glucocorticoid replacement, IAD can lead to neonatal death by acute adrenal insufficiency. This clinical entity was not previously well characterized because of the small number of published cases. Since identification of the first TPIT mutations, we have enlarged our series of neonatal IAD patients to 27 patients from 21 unrelated families. We found TPIT mutations in 17 of 27 patients. We identified 10 different TPIT mutations, with one mutation found in five unrelated families. All patients appeared to be homozygous or compound heterozygous for TPIT mutations, and their unaffected parents are heterozygous carriers, confirming a recessive mode of transmission. We compared the clinical and biological phenotype of the 17 IAD patients carrying a TPIT mutation with the 10 IAD patients with normal TPIT-coding sequences. This series of neonatal IAD patients revealed a highly homogeneous clinical presentation, suggesting that this disease may be an underestimated cause of neonatal death. Identification of TPIT gene mutations as the principal molecular cause of neonatal IAD permits prenatal diagnosis for families at risk for the purpose of early glucocorticoid replacement therapy.

Adolescent↗
PubMed2004

From bone biology to bone analysis.

Bone development is one of the key processes characterizing childhood and adolescence. Understanding this process is not only important for physicians treating pediatric bone disorders, but also for clinicians and researchers dealing with postmenopausal and senile osteoporosis. Bone densitometry has great potential to enhance our understanding of bone development. The usefulness of densitometry in children and adolescents would be increased if the physiological mechanisms and structural features of bone were given more consideration in the design and interpretation of densitometric studies. This review gives an overview on the most relevant techniques of quantitative noninvasive bone analysis. Furthermore it describes the relationship between bone biology, selected surrogates describing the biological processes and the possibilities of measuring these surrogates specifically and precisely by the different devices. The overall recommendation for researchers in this field is to describe firstly the biological process to be analyzed (bone growth in length, remodeling or modeling, or all together), secondly the bone parameter which describes this process, and thirdly the reason for selecting a special device.

Absorptiometry, Photon↗
PubMed2004

[Congenital hyperinsulinism in 15 infants, 1981-1999; experiences and new insights].

OBJECTIVE: To report on a retrospective study into the diagnostics and treatment of infants with congenital hyperinsulinism (CHI; persistent hyperinsulinemic hypoglycaemia). DESIGN: Retrospective and descriptive. METHOD: The study included all 15 patients diagnosed with CHI at the St Radboud University Medical Centre, the Netherlands, from 1981 until 1999. Data gathered by systematically searching case-notes included: presentation, clinical admission, laboratory results, treatment and follow-up. RESULTS: Four of the 15 infants were macrosomatic; 12 (80%) were presented within 4 days of birth, and the rest after the age of 5 months. Their symptoms were partially aspecific (feeding poorly, lethargy) and partially clear, corresponding to neuroglycopaenia (jitteryness, hypotonia). Nine infants experienced convulsions. The amount of glucose that had to be administered to achieve normoglycaemia (average: 16.9 mg/kg/min) was far above the basal requirement of 4-8 mg/kg/min. Ketone serum and free fatty acid values were lowered during a hypoglycaemic episode, hyperinsulinism was detected after repeated measurements. Five infants responded well to treatment with diazoxide. Ten children underwent subtotal pancreatectomy after which 4 remained normoglycaemic. Three of the 10 children who underwent surgery developed an exocrine pancreas dysfunction. We did not systematically examine neuropsychological development, but in 5 of the 15 children this was clearly disturbed.

Blood Glucose↗
PubMed2003

[The Noonan syndrome from a pediatric perspective].

Noonan syndrome is a relatively common autosomal dominant condition characterised by cardiac defects, short stature, feeding difficulties during the first year of life, and learning and behavioural problems later in life. The diagnosis is clinical and in 50% of cases it can be confirmed by a mutation in the PTPN11 gene. Studies into the effect of growth hormone treatment on final height have yet to provide any definite conclusions. Therefore, for the time being this treatment should be carried out in a research setting. Early-childhood feeding difficulties are troublesome. However, these disappear spontaneously and do not seem to negatively affect growth. Specific developmental patterns, resulting in behavioural and learning problems (non-verbal learning disability) are frequently encountered and require a specific approach.

Body Height↗
PubMed2002

Bone mineral density and body composition in Noonan's syndrome: effects of growth hormone treatment.

We assessed bone mineral density (BMD) and body composition in children with Noonan's syndrome (NS) before and during growth hormone (GH) treatment. Sixteen children (12 boys, 4 girls) with NS aged 5.8-14.2 (mean 10.0) years were studied for 2 years. Anthropometry, BMD measurements by radiographic absorptiometry and bioimpedance measurements (Akern-BIA 101/S) were performed at baseline and after 3, 6, 12 and 24 months. Daily GH dosage was 0.05 mg/kg. Trabecular volumetric BMD was normal; cortical BMD was in the lower normal range at baseline and slightly increased over the 2 years. Fat free mass and total body water were below normal at the start and increased significantly over the first 3 months, with a slight increment thereafter. Percentage fat mass decreased over the first 6 months and increased thereafter. These findings are comparable to the data on body composition in short normal children and girls with Turner's syndrome treated with GH.

Absorptiometry, Photon↗
PubMed2002

An adolescent with food-dependent Cushing's syndrome secondary to ectopic expression of GIP receptor in unilateral adrenal adenoma.

ACTH-independent Cushing's syndrome may be secondary to the expression of ectopic hormone receptors in adrenal tissue. In food-dependent Cushing's syndrome the adrenals aberrantly express receptors for gastric inhibitory polypeptide (GIP). We present the first case of food- and GIP-dependent adrenal adenoma in an adolescent. A 15 year-old girl presented with signs of hypercortisolism. Urinary cortisol excretion was clearly elevated. Upon the finding of very low fasting plasma cortisol levels with a rise during the morning, food-dependent cortisol secretion was suspected. Hourly measurements of plasma cortisol and GIP levels during a day with and a day without meals showed meal- and GIP-related cortisol secretion. Plasma ACTH levels were undetectable. Abdominal computed tomography showed a tumor of 2.5 x 2.5 x 2 cm in the left adrenal. Unilateral adrenalectomy was performed and microscopic examination of the tumor showed an adrenocortical adenoma. Incubation of adenomatous cells prepared from this tumor with GIP resulted in increased cortisol secretion. Using RT-PCR amplification and cDNA hybridization, the GIP receptor was found to be overexpressed in the adenoma tissue but not in the adjacent adrenal tissue. Twelve months after the operation, hourly measurements of plasma cortisol, GIP and ACTH levels on a day with and a day without meals no longer showed GIP-related cortisol production. The present report shows that in an adolescent with corticotrophin-independent Cushing's syndrome, food-dependent hypercortisolism is a possible diagnosis.

Adenoma↗
PubMed2001

Measuring skeletal changes with calcaneal ultrasound imaging in healthy children and adults: the influence of size and location of the region of interest.

We measured the quantitative ultrasound (QUS) parameters broadband ultrasound attenuation (BUA) and speed of sound (SOS) at the calcaneus using an ultrasound imaging device (UBIS 3000) in 698 healthy Caucasian male and female subjects (110 prepubertal, 356 pubertal/adolescent and 210 adult) between 6 and 77 years of age. The influence of different region of interest (ROI) diameters (6-20 mm) and software techniques (automatic (ROIaut), copied (ROIcop) and fixed coordinate (ROIfix) measurements) on annual rate of change, trend assessment interval (TAI; an estimate of the follow-up time required for measuring a true change), percentage of positioning errors (positioning of the ROI partly at the cortical edge or even partly beyond the calcaneus) and short-term precision error was studied. When using ROI diameters increasing from 8 to 20 mm, the annual rate of change of BUA and SOS did not change in adults, but was higher in prepubertal subjects (when subjects with positioning errors were excluded) as well as in pubertal/adolescent subjects. TAIs for BUA were shortest when using ROIaut with ROI diameters between 8 and 14 mm (TAI between 1.2 and 1.5 years for prepubertal boys and pubertal/adolescent subjects, 2.4 years for prepubertal girls, 2.7 years for postmenopausal women, and 9 years in men and premenopausal women). TAIs for SOS were 4 years or more, except for postmenopausal women (2.1 years) and prepubertal boys (3.2 years). Measurements with large ROI diameters, especially with fixed region coordinates, resulted in a high percentage of positioning errors and mostly in longer TAIs. Analysis of the short-term precision errors did not reveal these important differences between the various ROI diameters. Our results indicate that calcaneal ultrasound imaging may be useful for measuring skeletal changes in healthy children, especially with BUA, and in postmenopausal women with BUA and SOS using an automatic measurement in the region of lowest attenuation. ROI diameters of 12 mm should be used in prepubertal subjects and of 14 mm in pubertal/adolescent and adult subjects.

Adolescent↗
PubMed2001

Growth hormone (GH) secretion in children with Noonan syndrome: frequently abnormal without consequences for growth or response to GH treatment.

The role of GH insufficiency in the pathogenesis of short stature in Noonan syndrome is unclear. Cross-sectional study. Seventeen patients with Noonan syndrome (13 boys, 4 girls; aged 4.8-13.3 (mean 9.2) years) and short stature before start of GH treatment. Spontaneous 12-h overnight GH secretion by continuous sampling analysed using Pulsar, plasma IGF-I and IGFBP-3 levels, and 24-h urinary GH excretion were measured at start of GH treatment. A glucagon stimulation test was performed. Height and height velocity were monitored before and after 1 year of GH treatment. IGF-I and IGFBP-3 were remeasured after 1 year of GH treatment. Nine of the 17 children had a mean overnight GH concentration below the lower limit of the normal range. In six of the 17 patients, overnight GH profiles showed high trough GH concentrations. Glucagon stimulation tests were normal in 16 of the 17 patients. Mean IGF-I level was below normal (-0.4 SD). None of the parameters regarding GH secretion obtained from the overnight profile or provocative test was related to height or height velocity, nor to first year response to GH treatment. IGF-I and IGFBP-3 did not correlate with any of the GH secretion data. IGF-I and IGFBP-3 were related to height and height velocity at the start of GH treatment (r = 0.53 (P < 0.01) and r = 0.61 (P < 0.03) respectively). Rises in IGF-I and IGFBP-3 under GH treatment were related to the increment in height velocity (r = 0.70 (P < 0.01) and r = 0.71 (P < 0.02) respectively). Abnormalities in GH secretion are frequent in patients with Noonan syndrome and short stature. These abnormalities were not related to auxology at start of or response to GH treatment. Clinically GH insufficiency is not important in Noonan syndrome and monitoring spontaneous GH secretion is not necessary before the start of GH treatment.

Adolescent↗
PubMed2001

Effects of growth hormone treatment on left ventricular dimensions in children with Noonan's syndrome.

OBJECTIVE: To study the effects of long-term growth hormone (GH) treatment on left ventricular (LV) dimensions in children with Noonan's syndrome (NS). METHODS: Echocardiographic measurements of LV dimensions were performed before and during GH treatment in 27 participants (21 boys, 6 girls) in a partly controlled 3-year trial of high-dose GH treatment (0.15 IU/kg/day). Nineteen children had a congenital heart defect, 1 of them had hypertrophic obstructive cardiomyopathy. In the first 3 years, the children were assigned to 1 of 2 groups: group A with discontinuation of GH treatment in the 3rd year, or group B without GH treatment in the 1st year. After the 3rd year, 12 of the 27 children were followed up for 2 additional years to evaluate the long-term effects of GH treatment on the heart. RESULTS: At baseline, LV internal diameters were smaller, while posterior wall thickness were thicker than normal. Over the 1st year, changes in LV dimensions were comparable between the 2 groups. No significant differences were found in LV dimensions between the situation at baseline and after 4 years of GH treatment. CONCLUSION: Long-term high-dose GH treatment does not have clinically significant adverse effects on LV dimensions in children with NS.

Adolescent↗
PubMed2001

Can GnRH-agonist treatment cause slipped capital femoral epiphysis?

Slipped capital femoral epiphysis (SCFE) mainly occurs in pubertal children and is associated with delayed skeletal maturation, obesity, high growth velocity and tall stature. Furthermore, SCFE often coincides with endocrine disorders. This is the first report of a possible relationship between SCFE and GnRH agonist treatment: four patients developed SCFE during or shortly after treatment with GnRH agonists was stopped. We compared the clinical aspects of these patients with patients described in the literature who developed SCFE. Puberty started at the age of 3.3, 9.6, 0.0 and 5.6 years respectively. One patient developed sequential SCFE of both hips. SCFE occurred at the age of 11.9 (patient 1), 12.7 (patient 2), 14.3 (patient 2), 11.3 (patient 3) and 11.3 (patient 4) years. Of the five incidences of SCFE, one occurred during GnRH agonist treatment and four shortly after treatment was stopped. None of our patients met the typical criteria seen in SCFE and no 'regular' characteristics of patients with SCFE could be designated. Probably the hormonal changes during and shortly after treatment with GnRH agonists make the epiphysis more prone to slip. Considering our observations and by reviewing the literature, GnRH agonist treatment might present a risk factor for the occurrence of SCFE.

Adolescent↗
PubMed2001

Growth hormone treatment in children with Noonan's syndrome: four year results of a partly controlled trial.

UNLABELLED: The aim of the study was to evaluate the effect of continuous and discontinuous growth hormone treatment in Noonan's syndrome (NS) on linear growth and bone maturation. Thirty-seven children with NS aged between 5.4 and 17.5 y were treated with growth hormone (GH) in a dose of 0.15 IU kg)(-1) per day; 23 of these children were randomly assigned to one of 2 groups in a 3 y partly controlled prospective multicentre study. Group A (n = 8) immediately started GH treatment and after 2 y discontinued GH treatment for 1 y; group B (n = 15) served as a control group during the first year and started GH treatment after 1 y. After the 3 y study period, 17 out of the 23 children continued GH treatment. An additional 14 children (group C) were treated according to the same protocol, but without discontinuation of GH treatment. The effect of GH treatment for up to 3 y was evaluated in terms of gain in height standard deviation score (H-SDS) for calendar age and for bone age. Gain in H-SDS over the first year was significantly higher in the GH treatment group (+0.5) than in the non-treated group (+0.0); mean bone maturation was significantly faster in the GH treatment group (1.2 vs 0.5 y/y). Discontinuation in group A in the third study year resulted in catch-down growth (mean deltaH-SDS -0.2). Over 3 y of GH treatment, mean AH-SDS for calendar age was not significantly different between discontinuous (A: +0.8) and continuous treatment (B: +0.8; C: +1.2). Mean gain in H-SDS for bone age in the 3 groups (+0.2, 0.0. +0.3) was minimal after 3 y of GH treatment. CONCLUSION: This study confirmed the gain in H-SDS CA in Noonan's syndrome during long-term GH treatment. However, the accelerating effect of GH on bone maturation seemed to compromise the final height prognosis.

Adolescent↗
PubMed2000

[Clinical thinking and decision making in practice. A 7-year old boy with rapid growth and pubic hair].

A 7-year-old boy was tall, with a developing penis and initial growth of pubic hair. Due to the accelerated growth there was no premature adrenarche and due to the increased testicular volume there must have been a central cause for the production of androgens. Further specific investigations revealed an astrocytoma of the hypothalamus. After radiotherapy, the tumour exhibited no growth. The pubertal development was inhibited and the growth later stimulated by means of medication. In the case of pubertas praecox the growth chart and pubertal stages including testicular volume can help to differentiate between central and peripheral precocious puberty, narrow the diagnostic evaluation and reduce the time of the initial therapy.

Astrocytoma↗
PubMed2000

Calcaneal ultrasound imaging in healthy children and adolescents: relation of the ultrasound parameters BUA and SOS to age, body weight, height, foot dimensions and pubertal stage.

We investigated the quantitative ultrasound (QUS) parameters broadband ultrasound attenuation (BUA) and speed of sound (SOS) measured in the posterior part of the calcaneus at the region of interest (ROI) with the lowest attenuation, using an ultrasound imaging device (UBIS 3000) in 491 healthy Caucasian children and adolescents (262 girls, 229 boys) between 6 and 21 years old. The relation of age, body weight, height, foot dimensions and pubertal stage to BUA and SOS was assessed. BUA increased nonlinearly with age in boys and girls, r2 being 0.44 (p<0.001) and 0.57 (p<0.001), respectively. SOS increased linearly with age in girls (r2 = 0.04, p<0.001). There was no significant increase in SOS in boys (r2 = 0.01, p>0.05). Heel width was significantly correlated with BUA (r = 0.20, p<0.005 in boys; r = 0.27, p<0.05 in girls) and with SOS (r = -0.19, p<0.005 in boys; r = -0.08, p<0.05 in girls). After downward adjustment of the ROI size according to foot length quartiles, significantly lower BUA and SOS values were found compared with those with the standard ROI size of 14 mm. After correction for heel width and adjustment of the ROI size based on foot length, BUA and SOS were significantly associated with age in boys (r2 = 0.36, p<0.001 and 0.06, p<0.05) and in girls (r2 = 0.53 and 0.06, both p<0.001). Tanner stage was significantly correlated with BUA (r = 0.62, p<0.001 in boys; r = 0.73, p<0.001 in girls) but not with SOS. BUA but not SOS increased significantly with the number of years since menarche (p<0.001). In a multiple stepwise regression analysis in boys, age, weight and foot length were independent predictors for BUA, and age and foot length for SOS. In girls, age and weight were independent predictors for BUA and age was the only independent predictor for SOS. After correction for age, pubertal stages and heel width were no longer determinants for QUS parameters in either boys or girls. In conclusion, BUA increased significantly with age in both sexes. SOS increased with age in both boys and girls, but the increase was small and not statistically significant in boys. SOS, as measured with the UBIS 3000 device, may therefore not be appropriate to assess skeletal status in healthy children. Whether SOS and BUA are affected in children with skeletal disorders has yet to be determined. In boys, age, weight and foot length were independent predictors for BUA and age and foot length for SOS. In girls, age and weight were independent predictors for BUA and age was the only independent predictor for SOS. In our opinion, children with small feet should be measured with a smaller ROI diameter than those with larger feet.

Adolescent↗