Case Discussion

Possible explanations for Lily’s short stature include short stature homeobox (SHOX) gene deficiency, familial short stature, late-onset congenital adrenal hyperplasia (CAH), and born small for gestational age (SGA). The webbing of the neck and cubitus valgus are consistent with SHOX deficiency or Turner syndrome;¹ familial short stature is possible considering that some of her relatives were somewhat shorter than average. Late-onset CAH is suggested by her advanced bone age and the presence of mild hirsutism. SGA is also possible: the upper limits for growth hormone treatment of SGA for a 39-week gestation female are length of 18.5 inches and weight of 5.5 pounds. With a birth weight of 4 pounds and a length of 17 inches, she would have met the treatment criteria for SGA. Since Lily’s menarche occurred at age 10, her pubertal development must have been relatively advanced at her 8-year and 9-year evaluations, although there was no record of this in her chart. Other tests that are useful for pubertal patients with short stature include luteinizing hormone, follicle stimulating hormone, and testosterone/estradiol. In some cases transglutaminase IgA and sedimentation rate may be evaluated, but in this case due to her normal weight celiac disease was considered unlikely in this patient.

This case is notable for a number of missed opportunities to diagnose and treat Lily’s short stature. She met the criteria for SGA at birth, but there was no indication that treatment was considered. In addition, although she was said to have been between the 10th and 25th percentiles throughout development, in the absence of a completed growth chart it is impossible to independently verify this. Although her physical findings are typical of Turner syndrome, no one has ever performed a Turner syndrome work-up. Considering that menarche occurred at age 10, it is likely that she had either early pubertal development beginning at approximately age 8, or that she had exceptionally rapid pubertal development. This observation also raises the question of whether her parents might have recognized her early pubertal development.