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Recurrent hypoglycemia due to growth hormone deficiency in an infant with Turner syndrome
-
Walter Bonfig
Veröffentlicht/Copyright:
18. August 2012
Abstract
Background: Growth hormone (GH) deficiency may occur in Turner syndrome (TS), but infantile hypoglycemia attributable to TS with GH deficiency has not been reported before.
Objectives: We report a puzzling case of neonatal hypoglycemia due to GH deficiency in Turner syndrome. Array CGH was used to scrutinize the complex TS karyotype.
Methods: Standardized laboratory procedures.
Results: In a preterm (32 weeks) with prolonged and cholestatic jaundice, recurrent hypoglycemia occurred at the age of 1.5 months and was related to GH deficiency. There were no other endocrine or syndromic features. GH therapy was started at a usual dose of 25–30 μg/kg/day, but hypoglycemia recurred. Hepatopathy and hypogammaglobulinemia suggested X-recessive GH deficiency type 3 with non-random X-inactivation but resolved spontaneously. Nonetheless, a 45,X[75]/46,X,i(Xq)[21]/47,X,i(Xq)x2[4] TS karyotype was diagnosed with an apparent isochromosome fusion at the centromere. Upon this diagnosis, GH dose was doubled (50 μg/kg/day), and blood glucose was normalized consistently. In array CGH, the signal of Xp deviated more strongly than that of Xq, but the relation of the signals differed substantially from what the karyotype predicted. The isochromosome fusion point was relocated to Xp11.22, distal to a block of mental retardation genes that escape X-inactivation.
Conclusions: i) TS with GH deficiency should be considered as a potential differential diagnosis of hypoglycemia in infants requiring higher doses of GH. ii) While array CGH may be erroneous in quantification of TS mosaicism, it is useful in precisely delineating isochromosomes and identifying genes on them that escape X-inactivation and thus possibly affect the TS phenotype.
Keywords: array CGH; follicle-stimulating hormone; glucose; growth hormone; hypoglycemia; infant; mosaicism; preterm; sampling variance
Received: 2012-3-31
Accepted: 2012-7-11
Published Online: 2012-08-18
Published in Print: 2012-10-01
©2012 by Walter de Gruyter Berlin Boston
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Schlagwörter für diesen Artikel
array CGH;
follicle-stimulating hormone;
glucose;
growth hormone;
hypoglycemia;
infant;
mosaicism;
preterm;
sampling variance
Artikel in diesem Heft
- Masthead
- Masthead
- Editorial
- Growth hormone mortality: will history repeat itself?
- Review articles
- Interval training and the GH-IGF-I axis – a new look into an old training regimen
- Bone health in children and adolescent with Turner syndrome
- Metabolic alterations in pregnant women: gestational diabetes
- Short communication
- A method to determine the likelihood of transition to puberty in a heterogeneous prepubertal age group
- Images in pediatric endocrinology
- Hypopituitarism occurring in neonatal sepsis
- Original articles
- In congenital hypothyroidism, an initial L-thyroxine dose of 10–12 μg/kg/day is sufficient and sometimes excessive based on thyroid tests 1 month later
- TSH suppression after intravenous glucocorticosteroid administration in preterm infants
- Frequency of subclinical hypothyroidism in 5- to 15-year-old children with migraine headache
- Higher dose of methimazole causes frequent adverse effects in the management of Graves’ disease in children and adolescents
- Water deprivation test in children with polyuria
- Training increases anabolic response and reduces inflammatory response to a single practice in elite male adolescent volleyball players
- Positive effects of zinc supplementation on growth, GH, IGF1, and IGFBP3 in eutrophic children
- A novel intronic mutation in SHOX causes short stature by disrupting a splice acceptor site: direct demonstration of aberrant splicing by expression of a minigene in HEK-293T cells
- Increased growth hormone receptor (GHR) degradation due to over-expression of cytokine inducible SH2 domain-containing protein (CIS) as a cause of GH transduction defect (GHTD)
- Japanese growth prediction model for prepubertal children with growth hormone deficiency
- Clinical features and management of diabetic ketoacidosis in different age groups of children: children less than 5 years of age are at higher risk of metabolic decompensation
- Relationship between left ventricular mass and carotid intima media thickness in obese adolescents with non-alcoholic fatty liver disease
- Serum ischemia-modified albumin level and its association with cardiovascular risk factors in obese children and adolescents
- Obesity, insulin resistance, and the risk of an elevated alanine aminotransferase activity in the Korean adolescent population
- Leptin and IGF-I/II during the first weeks of life determine body composition at 2 years in infants born with very low birth weight
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- Mutational analysis of the GYS2 gene in patients diagnosed with ketotic hypoglycaemia
- Low bone status in Indian growth hormone-deficient children
- Gender related differences in glucocorticoid therapy and growth outcomes among pubertal children with 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH)
- Elevated serum anti-Müllerian hormone in adolescents with polycystic ovary syndrome: relationship to ultrasound features
- Recurrent hypoglycemia due to growth hormone deficiency in an infant with Turner syndrome
- Patient reports
- Intrathyroidal ectopic thymic tissue may mimic thyroid cancer: a case report
- Hypercortisolism and hypothyroidism in an infant with Smith-Lemli-Opitz syndrome
- Peripheral precocious puberty due to inadvertent exposure to testosterone: case report and review of the literature
- Absent phallus: issues in management
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- Transient isolated marked elevation of midregion parathyroid hormone fragments in an infant
- A novel splice site mutation of the beta subunit gene of epithelial sodium channel (ENaC) in one Turkish patient with a systemic form of pseudohypoaldosteronism type 1
- Letters to the editor
- What is the priority in nutritional rickets: prevention or therapy?
- The true relation between vitamin D and insulin sensitivity: is it easy to establish?
- Birth asphyxia and hypothermia therapy: is survivin the orchestrator of recovery?
- Delayed cord clamping in intrauterine growth restriction (IUGR) neonates: is there a need to establish clinical cut-off score for inclusion?
