Case report of a Hispanic female with cystic fibrosis and short stature

Abstract

A 10-year-old female with cystic fibrosis (CF), diagnosed by newborn screen, and pancreatic insufficiency was referred by gastroenterology to endocrinology for short stature (Z-score -3.5 SD). She had poor growth velocity and delayed bone age, although stunting of her growth was evident by age 6 years. Her karyotype was consistent with Turner syndrome (45,X). Growth hormone therapy has improved her growth velocity; she is tolerating it without side effects. At 12 years old, she has delayed puberty due to primary ovarian failure and will initiate estrogen replacement. Her case highlights the importance of a comprehensive evaluation for short stature in individuals with CF. Poor growth velocity and extreme short stature should not be dismissed as expected comorbidities of CF. The differential for causes of short stature is broad, with some etiologies having significant sequalae and increased morbidity beyond that already seen in CF.

Keywords: Cystic fibrosis; Genetic short stature; Growth hormone; Hispanic; Hypogonadism; Turner syndrome.

Fig. 1

Growth charts. The patient's height, weight and body mass index (BMI) are plotted on the CDC girls' growth charts. The arrow indicates when growth hormone was initiated.