A 13-year-old female with no significant past medical history presented to a pediatric endocrinology clinic for evaluation of short stature.
Student Discussion Document (pdf)
Shayna L. DeSando and Alina-Gabriela Sofronescu
A 13-year-old female with no significant past medical history presented to a pediatric endocrinology clinic for evaluation of short stature. The patient was referred by her primary care provider who was concerned that, although growing well initially, she had dropped across growth percentiles in the last few years. She was accompanied by her mother and father, who were 4′11″ and 5′ 5″, respectively. According to her parents, the patient was born full term, following an uncomplicated pregnancy and delivery, with a normal birth weight and normal genitalia. The patient denied prior head trauma; however, she gave a history of fatigue as well as headaches after school. Additionally, the patient reported visual problems and recently had been told she needed glasses, although she was still waiting to be seen by an ophthalmologist.
Given the lack of dysmorphic features and the short statures of the patient’s parents, constitutional delay of growth and puberty or familial short stature were favored as the differential diagnosis of the patient’s short stature. However, due to the patient’s decreased height velocity, the clinician decided to order a spectrum of laboratory tests to rule out endocrine deficiency as a potential etiology. This panel included: free thyroxine (T4), thyroid stimulating hormone (TSH), insulinlike growth factor-1 (IGF-1), and IGFBP-3. Insulinlike growth factor binding protein-3 (IGFBP-3) was normal, but IGF-1 was decreased (Table 1). Additionally, free T4 was low and TSH elevated. Additional laboratory studies were ordered to further investigate the patient’s hypothyroidism. Anti-thyroperoxidase antibodies and anti-thyroglobulin antibodies were both negative.