ESPE Abstracts

Background: The association between Turner syndrome and Type1/ Type 2 diabetes is well known. Growth hormone is also utilized in Turner syndrome to improve height outcomes, but association of Turner patients with growth hormone deficiency is rare. To my knowledge, there are no cases of concurring Turner syndrome, Type 1 diabetes, and growth hormone deficiency.

Objectives: To describe a rare case where a child diagnosed with Type 1 diabetes was found to have both Turner syndrome and growth hormone deficiency.

Methods: A 5-year-old Caucasian female presented in diabetic ketoacidosis with diagnosis of new onset Type 1 diabetes. A1C was 10.1% and Insulin Ab positive. Patient was noticed to be very small for height. After initial diagnosis and improvement of hyperglycemia, her weight returned to baseline at 17% and BMI of 80.68%, but she remained petite with height plotting at 1.11% for age. Mid-parental target height was 66.9 inches (80%). Growth velocity was slow at 3.84 cm/year. Initial labs evaluating short stature showed low normal IGF-1 of 40 ng/ml (36-214 ng/mL) and normal IGF-BP3 of 2457 mg /l (1854-5242 mg /L). Bone age was 3 years 10 months at chronological age 5 years 8 months. Growth hormone stimulation testing with arginine and clonidine demonstrated peak growth hormone level of 7.6 ng/mL. MRI of the brain showed mildly diminished pituitary gland size. Karyotype was performed and patient diagnosed with 45, X/47, XXX mosaicism. She did not have overt dysmorphic features aside from slightly low set, posteriorly rotated ears and ptosis of the upper eyelids. Growth hormone was initiated with good response, height increased from 0.25% to 5.15%.

Results: This is a case report of a rare incidence in which a child diagnosed with Type 1 diabetes was found to have both growth hormone deficiency with small pituitary gland and mosaic Turner syndrome.

Conclusion: Girls with Turner syndrome have an increased risk of developing diabetes, most commonly Type 2 diabetes due to insulin resistance. There is also an increased risk of autoimmune disorders, most commonly celiac and thyroid disease but includes Type 1 diabetes. Turner syndrome is associated with use of growth hormone, rarely has a diagnosis of growth hormone deficiency been made. This case provides an example that evaluation for growth hormone deficiency may be important in girls with Turner syndrome in addition to providing evidence for the potential autoimmune role in some cases of growth hormone deficiency.