Central European Annals of Clinical Research

(ISSN: 2668-7305) Open Access Journal
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Central European Annals of Clinical Research (CEACR) is no longer published on JAMS (the publishing platform provided by MDPI) as of 10.07.2021. The articles published until that date are archived at ceacr.archive.jams.pub by courtesy of JAMS.

Cent_Eur_Ann_Clin_Res 2020, 2(1), 9; doi:10.35995/ceacr2010009

Endoped Abstract
Laron Syndrome—Possibilities of Diagnoses, Treatment, and Outcome
Camelia Alkhzouz 1,*, Cecilia Lazea 1 and Diana Miclea 2
1
First Pediatric Department, Faculty of Medicine, “Iuliu Hatieganu” University of Medicine and Pharmacy, 8 Babeş Street, Cluj-Napoca 400012, Romania; cicilazearo@yahoo.com
2
Department of Molecular Sciences, Faculty of Medicine “Iuliu Haţieganu” University of Medicine and Pharmacy, 8 Babeş Street, Cluj-Napoca 400012, Romania; bolca12diana@yahoo.com
*
Corresponding author: alkhzouz@yahoo.com
How to cite: Alkhzouz, C.; Lazea, C.; Miclea, D. Laron Syndrome—Possibilities of Diagnoses, Treatment, and Outcome. Cent. Eur. Ann. Clin. Res. 2020, 2(1), 9; doi:10.35995/ceacr2010009.
Received: 20 October 2020 / Accepted: 3 November 2020 / Published: 4 November 2020
Keywords:
Laron syndrome; diagnosis; growth hormone insensitivity; type 2 diabetes mellitus

Background

Laron syndrome (growth hormone insensitivity) is a rare autosomal recessive condition characterized by severe short stature with postnatal onset usually [1], particular facial features and hypoglycemia in childhood, and type 2 diabetes mellitus, dyslipidemia, metabolic syndrome, and obesity in adulthood [2], caused by growth hormone receptor (GHR) anomalies (insensitivity). It is estimated that there are 350 people with this condition worldwide [3]. The growth hormone receptor mutation prevents the stimulating effects of growth hormone, inducing insulin-like growth factor-1 (IGF1) deficiency. Treatment with recombinant IGF1, the only treatment option which can improve final height [4], is not available for all patients.

Aim

Present the clinical outcomes of a Laron syndrome patient untreated and on hormonal substitution treatment.

Case Report

A 18-year-old girl with Laron syndrome diagnosed at the age of 2 years and 10 months, based on the clinical feature of severe short stature (height—63 cm; −8.24 SDS, standard deviation score), particular facial features (protruding forehead, saddle nose, large eyes, sparse and thin silky hair, and high-pitched voice), small hands and feet, and sweating and hypotonic episodes, especially in the morning. The endocrine growth axis assessment revealed an elevated growth hormone concentration (>40 ng/mL; 0–8 ng/mL) and very low serum IGF-1 levels (<25 ng/mL; NV = 75–175), respectively, and delayed bone age (9 months—Greulich and Pyle). The genetic assay showed a homozygous pathological variant (c476T > A L141X) in the 6 exon of the GHR gene. The growth velocity without hormonal substitution was low at 0.23 cm/month (14.5 cm/63 months). After 15 months (between 8 years 1 month and 9 years 4 months) of IGF1 (mecasermin) treatment, the growth velocity increased to 0.53 cm/month, the girl’s height increased from 77.5 cm (−8.55 SDS) to 85.6 cm (−7.94 SDS). After IGF1 treatment discontinuation, height velocity fell to 0.22 cm/month. At the age of 17 years and 2 months, hormone replacement therapy with mecasermin was resumed up to 18 years. The patient also had associated pubertal delay; thelarche started at the age of 15 and progressed slowly. The final height of the patient was 117 cm. In addition, she has developed focal epilepsy, obesity, and depression.

Conclusions

Early diagnosis and hormone substitution therapy may reduce the clinical consequences of complications, improving the prognosis.

Funding

This research received no external funding.

Conflicts of Interest

The authors declare no conflict of interest.

References

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