ESPE Abstracts (2015) 84 P-3-1019


Laron Syndrome Caused by a Large Deletion in GH Receptor Gene

Gul Yesiltepe Mutlua, Heves Kirmizibekmeza, Ahmet Armanb & Sukru Hatunc


aDepartment of Pediatric Endocrinology, Zeynep Kamil Gynecologic and Pediatric Training and Research Hospital, Istanbul, Turkey; bDepartment of Medical Genetics, Marmara University, Istanbul, Turkey; cDepartment of Pediatric Endocrinology, Kocaeli University, Kocaeli, Turkey

Background: Laron syndrome, which is characterised with GH insensitivity, is caused by mutations of GH receptor (GHR). GHR, consisting of nine exons, is located on 5th chromosome. Typical findings of this syndrome are immature facial appearance, prominent forehead and eyes, depressed nasal bridge, low IGF1 and IGFBP3 levels which do not increase with IGF-generation test.

Case report: A 4-year and 3-month old boy was admitted because of growth retardation. The birth weight was 4 100 g and he was hospitalized for respiratory distress and jaundice in the neonatal period. He also had micropenis and cryptorchidism. Parents were non-consanguineous; however their roots were from the same village. Physical examination revealed midfacial hypoplasia, depressed nasal bridge, prominent forehead. The height was 77 cm (<3p, −6.3 S.D.s), the weight was 8.6 kg (<3p, −7.4 S.D.s), the head circumference was 45 cm (<3p), the left testis was 2 ml, the right testis was retractile and 1–2 ml in size and stretched penile length was 2.6 cm. Laboratory investigations showed that the electrolytes were normal, venous glucose level was 49 mg/dl, thyroid functions were normal, baseline GH level was 23.3 ng/ml, IGF1 was <25 ng/ml and IGFBP3 was <0.5 μg/ml. IGF1 and IGFBP3 levels were still undetectable after an IGF-generation test. The patient was diagnosed with GH insensitivity and treatment with Mecacermine was commenced. A large deletion in exon 4–10 was detected with genetic analyses.

Conclusion: There are more than 200 patients with GH insensitivity. Most cases in the literature have mutations on exon 2–7. According to our knowledge our patient is the second case with this mutation. This case was reported since it is a very rare clinical condition.

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