ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 3 Year: 2024
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Turkish Society for Pediatric Endocrinology and Diabetes
A Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome – a Case Report [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. Ahead of Print: JCRPE-30085 | DOI: 10.4274/jcrpe.galenos.2022.2022-9-19

A Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome – a Case Report

N. Yordanova1, V. Iotova1, D. J. G. Mackay5, I. K. Temple3, S. Stoyanova1, M. Hachmeriyan4
1Dept. of Pediatrics, Medical University – Varna, Bulgaria
2Wessex Regional Genetics Laboratory, Salisbury Foundation NHS Trust, Salisbury, UK
3Faculty of Medicine, University of Southampton, Southampton, UK
4Dept. of Medical Genetics, Medical University – Varna, Bulgaria
5Wessex Regional Genetics Laboratory, Salisbury Foundation NHS Trust, Salisbury, UK and Faculty of Medicine, University of Southampton, Southampton, UK

Temple syndrome (TS) is a rare imprinting disorder, caused by alterations in the critical imprinted region 14q32 of chromosome 14. It is characterized by pre- and postnatal growth retardation, truncal hypotonia and facial dysmorphism in the neonatal period. We report a 18-year-old girl with a late diagnosis presenting all typical signs and symptoms of Temple syndrome - small for gestational age at birth, feeding difficulties, muscle hypotonia and delayed developmental milestones, central precocious puberty, truncal obesity and reduced growth. The patient is the second reported in the literature with signs of clinical and biochemical hyperandrogenism and the first treated with Dehydrocortisone®, with a good response. The clinical diagnosis of this patient was achieved after a long-term follow up at a single center of rare endocrine diseases, and a molecular genetics diagnosis of complete hypomethylation of 14q32 chromosome imprinting center (DLK/GTL2) was recently established. Growth hormone (GH) treatment was not given and although precocious puberty was treated in line with standard protocols, patient’s final height remained below the target range. Increased awareness of Temple syndrome and timely molecular diagnosis enables improvement of clinical care of these patients as well as prevention of inherent metabolic consequences.

Keywords: Temple syndrome (TS), late diagnosis, long-term follow-up.

Corresponding Author: N. Yordanova, Bulgaria
Manuscript Language: English
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