ESPE Abstracts

Introduction: Primary growth hormone (GH) insensitivity is an autosomal recessive pathology caused by molecular defects in the GH receptor gene. In Chile there are 3 reported patients.

Clinical case: Female patient, newborn of 37 weeks, due to delivery, adequate for gestational age. Son of non-consanguineous parents. Hospitalized at 12 hours of life in the neonatology unit due to persistent tremors, jaundice and septic symptoms due to connatal pneumonia, HGT < 40 MG% is performed, repeated 3 times, it is assumed to be due to infection, it is cultured and started antibiotic therapy and glucose load at 6 mg/kg/minute which required an increase up to 8 mg/kg/min, with which he achieved preprandial glycemia between 60 and 90 mg/dL, for which it was decided to suspend glucose load at 48 hours. Clinically, the infectious picture evolves well, however, he presents hypoglycemia again, for which endocrinology evaluation is requested, who evaluates him on day 11 of life, highlighting the active newborn physical examination, preserved muscle tone, wide fontanelle, hypertelorism, nasal bridge flat, separate nipples, a study of hypoglycemia and measurement of glycemia prior to feeding is decided and a critical sample in case of presenting new hypoglycemia, which is taken at 12 days of life, in a critical sample the following stands out: glycemia of 31 mg/dL, insulin <.20 uU/mL, Cortisol 23.15 mmol/L, ammonium 57.1 mg/dL, ketonemia 0.59 mg/dL, GH61.3 ng/mL, C-peptide 0.2 ng/mL, Growth hormone resistance syndrome is suspected, igf-1 levels is measured resulting in <15 ng/mL (NR 18-172 ng/mL). Faced with these results and phenotypic characteristics of the patient, a genetic evaluation was decided. Invitae hypoglycemia panel reporting GHR Gen / pathogenic variant c.181 C>T (p. Arg 61*) / Concluding two pathogenic variants identified in GHR Gen: Laron syndrome (autosomal recessive) and Hormone insensitivity syndrome partial growth (autosomal dominant). Adequate contributions are achieved, with free-demand breastfeeding associated with initial formula reinforcement, to date there has been no new hypoglycemia event.

Discussion: Laron syndrome is a rare cause of hypoglycemia, in the case presented the genetic diagnosis has been achieved early, however children with severe IGF-I deficiency due to congenital or acquired defects in the action of GH have short stature that cannot be remedied with GH treatment. Studies with this treatment report an increase in growth velocity. Currently our patient is waiting to be able to obtain the treatment.