ESPE Abstracts

Introduction: Primary growth hormone resistance or growth hormone insensitivity syndrome (Laron syndrome) is an autosomal recessive disorder caused by deletions or mutations in the growth hormone receptor gene or by post receptor defects. Laron is characterized by a clinical appearance of sever growth hormone deficiency with high levels of growth hormone in contrast to low insulin-like growth factor 1 values and in this cases are refractory to both endogenous and exogenous growth hormone treatment with recombinant human insulin-like growth factor-1 (rhIGF-1).

Case Presentation: We describe two Iraqi cases with Laron syndrome: The first case; a 10-year old female child who presented with postnatal growth failure and hypoglycemic seizures. The second case; a 5-year old male child who is the son of the cousin of the first case Presented with postnatal growth failure. Consanguinity, positive for both families as for the patients.

Evaluation of both cases: Revealed sever short stature, the classic features of growth hormone deficiency (midfacial hypoplasia, frontal prominence, saddle nose, flat nasal bridge, high pitched voice, dental caries, poor dentition).

Measurements: For the first case; weight 11kg, height 79cm both they were far below the 3^rd centile (-10.6 SDS) . Bone age 4 year according to RUS atlas. For the second case, his weight 10 kg, height 72cm (-7.6 SDS) bone age 4 year.

Investigations: Disclosed high plasma GH levels and low IGF-1 in both cases the rest of investigations were normal.

Conclusion: From the clinical findings in the context of typical phenotype of growth hormone deficiency along with elevated GH level and low IGF-1 confirmed the diagnosis of growth hormone insensitivity syndrome (Laron syndrome). Genetic testing could not be done because of unavailability in our country also specific therapy in the form of recombinant IGF-1 not available