Patient Demographics
A 22-month-old female, severe failure to thrive.
Clinical Presentation
Length was 66 cm (−5.1 SD), and weight was 6.6 kg (−6.7 SD). Prominent forehead and midfacial hypoplasia were noted. Muscle mass was decreased.
Past History
Birth weight 5 lb 11 oz at term, grew well for 4 months and then progressively deviated below the curve in length and weight. Mother's height was 5 ft 3 in., with menarche at age 13 years. Father, −4 SD, was diagnosed with isolated growth hormone deficiency at 7 years of age, and treated (5 ft 4 in.). Siblings included a 6-year-old brother who was very small at age 22 months during an endocrine evaluation and a 3-year-old sister with height and weight at both −4 SD.
Evaluation
Free T4 was 1.28 ng/dL (normal 1.1–1.7), TSH 1.8 μU/mL (normal range). IGF-1 less than 25 ng/mL (44–174) and IGFBP-3 less than 0.5 μg/mL (1.3–3.5) were both very low. Growth hormone stimulation testing peak of 1.1 ng/mL. DNA sequencing of the GH-1 gene found a heterozygous sequence variance.
Interventions
Growth hormone (GH) therapy was started at 0.27 mg/kg per week. Headaches began 5 days later, likely because of increased intracranial pressure, so GH was stopped and the dose reduced by one third, which was tolerated. She has grown about 12 cm during the first 10 months but is still −3.5 SD.
Discussion/Recommendations
Failure to thrive in the first 2 years of life rarely has an endocrine etiology. In this case, recognizing the importance of the family history and better compliance with follow-up care of the older siblings might have resulted in earlier diagnosis and treatment. The headaches, likely due to benign intracranial hypertension, suggests that this complication of GH therapy might be more common in children with this rare and severe form of GH deficiency, so starting GH at lower doses than usual would be prudent.
Article info
Identification
Copyright
© 2012 Published by Elsevier Inc.
