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Roth, Christian

Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

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2191-0251
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In This Section
Volume 25, Issue 9-10 (Oct 2012)

Issues

Recurrent hypoglycemia due to growth hormone deficiency in an infant with Turner syndrome

Walter Bonfig
  • Kinderklinik, Technische Universität München, Kölner Platz 1, 80804 München, Germany
  • Walter Bonfig and Nabeel J.M. Salem contributed equally to the study.
/ Nabeel J.M. Salem
  • Institut für Humangenetik, Technische Universität München, Trogerstr. 32, 81675 München, Germany
  • Present address: Department of Pediatrics, Salmaniya Medical Complex, P.O. Box 12, Kingdom of Bahrain.
  • Walter Bonfig and Nabeel J.M. Salem contributed equally to the study.
/ Katrin Heiliger
  • Institut für Humangenetik, Technische Universität München, Trogerstr. 32, 81675 München, Germany
/ Maja Hempel
  • Institut für Humangenetik, Technische Universität München, Trogerstr. 32, 81675 München, Germany
/ Gaby Lederer
  • Institut für Humangenetik, Technische Universität München, Trogerstr. 32, 81675 München, Germany
/ Milena Bornkamm
  • Kinderklinik, Technische Universität München, Kölner Platz 1, 80804 München, Germany
/ Karen Wieland
  • Kinderklinik, Technische Universität München, Kölner Platz 1, 80804 München, Germany
/ Peter Lohse
  • Klinische Chemie, Großhadern, Ludwig-Maximilians-Universität München, Marchioninistr. 15, 81377 München, Germany
/ Stefan Burdach
  • Kinderklinik, Technische Universität München, Kölner Platz 1, 80804 München, Germany
/ Konrad Oexle
  • Corresponding author
  • Institut für Humangenetik, Technische Universität München, Trogerstr. 32, 81675 München, Germany
  • Email:
Published Online: 2012-08-18 | DOI: https://doi.org/10.1515/jpem-2012-0103

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

About the article

Corresponding author: PD Dr. Konrad Oexle, Institut für Humangenetik, Klinikum rechts der Isar, Technische Universität München, Trogerstr. 32, 81675 München, Germany, Phone: +49-89-4140-6386, Fax: +49-89-4140-6382


Received: 2012-03-31

Accepted: 2012-07-11

Published Online: 2012-08-18

Published in Print: 2012-10-01



Citation Information: Journal of Pediatric Endocrinology and Metabolism, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2012-0103. Export Citation

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