Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency
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Abstract
We report the case of a boy affected by severe intrauterine and postnatal growth retardation, microcephaly, facial dysmorphisms and postnecrotic cirrhosis, diagnosed at birth as having Seckel syndrome, and subsequently confirmed as Majewski osteodysplastic primordial dwarfism type II (MOPD II) on the basis of clinical and radiological features of skeletal dysplasia. At our observation (6 years 7 months) he presented height –10.3 standard deviation score (SDS), weight –22.1 SDS, head circumference –8 SDS, delayed bone age of 4 years with respect to chronological age. In consideration of the low levels of insulin-like growth factor-1 (IGF-1) as well as of hepatic insufficiency, we started the treatment with recombinant human IGF-1 (rhIGF-1) at the dose of 0.04 mg/kg in 2 doses/day, with an increase of 0.04 mg/kg after 1 week until the maximum dose of 0.12 mg/kg. We observed an early response to rhIGF-1 treatment, with a shift of height velocity from 1.8 cm/year (–4.6 SDS) at 4 cm/year (–1.9 SDS), and an increase in bone age of 1.5 years during the first 6 months. rhIGF-1 treatment does not seem to be able to replace the physiological action of IGF-1 in patients with MOPD II and hepatic insufficiency, however, it seems to preserve the typical growth pattern of MOPD II patients, avoiding a further widening of the growth deficiency in these subjects.
We would like to thank Valérie Cormier-Daire from Department of Genetics Hôpital Necker/Paris/FRANCE for the molecular genetic analysis.
Conflict of interest statement: The authors declare that they have no conflict of interest.
References
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©2013 by Walter de Gruyter Berlin Boston
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Articles in the same Issue
- Masthead
- Masthead
- Editorials
- Editorial
- Precocious puberty and diagnostic tests
- Review article
- The influence of carbohydrate quality on cardiovascular disease, the metabolic syndrome, type 2 diabetes, and obesity – an overview
- Original Articles
- Triptorelin depot stimulation test for central precocious puberty
- Umbilical cord and fifth-day serum vaspin concentrations in small-, appropriate-, and large-for-gestational age neonates
- Growth patterns in pubertal HIV-infected adolescents and their correlation with cytokines, IGF-1, IGFBP-1, and IGFBP-3
- Estrogen receptor α gene analysis in girls with central precocious puberty
- Trends of body composition among adolescents according to maturation stage and body mass index
- Oxidized low-density lipoprotein levels and carotid intima-media thickness as markers of early atherosclerosis in prepubertal obese children
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- Impact of inborn errors of metabolism on admission in a neonatal intensive care unit: a 4-year report
- Correlation between bone mineral density measured by peripheral and central dual energy X-ray absorptiometry in healthy Indian children and adolescents aged 10–18 years
- Thyroid-stimulating hormone (TSH) level in nutritionally obese children and metabolic co-morbidity
- Hepatocyte growth factor as an indicator of neonatal maturity
- Pathophysiology of critical illness hyperglycemia in children
- The influence of exposure to maternal diabetes in utero on the rate of decline in β-cell function among youth with diabetes
- Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis
- Abdominal aorta intima media thickness in obese children
- Patient reports
- KCNJ11 in-frame 15-bp deletion leading to glibenclamide- responsive neonatal diabetes mellitus in a Chinese child
- Hoffmann’s syndrome and pituitary hyperplasia in an adolescent secondary to Hashimoto thyroiditis
- Late diagnosis of Cushing’s disease in a child: what lessons can be learned?1)
- Variable phenotype in five patients with Wolcott-Rallison syndrome due to the same EIF2AK3 (c.1259delA) mutation
- Recurrent infantile hypoglycemia due to combined fructose-1,6-diphosphatase deficiency and growth hormone deficiency
- A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia
- Transient neonatal hyperparathyroidism: a presenting feature of sialidosis type II
- Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency
- Duplication of dosage sensitive sex reversal area in a 46, XY patient with normal sex determining region of Y causing complete sex reversal
- The search for ectopic ACTH production in a 9-year-old boy
- Development of antibodies against growth hormone (GH) during rhGH therapy in a girl with idiopathic GH deficiency: a case report
- Ovotesticular disorder of sexual development and a rare 46,XX/47,XXY karyotype
- Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism
- Letters to the Editors
- How much truth is there in the association between endometriosis and atherosclerosis?
- Delayed cord clamping in plethoric term neonates of diabetic mothers: friend or foe?
- Meetings
- Meetings Calendar
