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Case:
A 12-year-old Girl with Short Stature
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Case Presentation
Lily (a pseudonym), a female aged 12 years 10 months, was referred for a second opinion for short stature. Her past medical history was significant for a 39-week gestation, birth weight of 4 pounds, and birth length of 17 inches. In childhood she had macrocephaly and benign normal pressure hydrocephalus that did not require surgery. Lily had normal developmental milestones, and she achieved menarche at age 10. Her family history includes autosomal dominant kidney disorder. Her mother is 60 inches tall, had a normal puberty, and has female siblings that are 62 inches tall. Her father is 67 inches tall, had a normal puberty, and has female siblings that are 58 and 63 inches tall.
Although her growth chart was not available, her height and weight at annual physical examinations through the age of 10 were reportedly always between the 10th and 25th percentile, and she was in the 10th to 25th percentile at her 10-year physical examination. Her menstrual periods were regular when she first reached menarche, but became irregular in the last 2 years. Lily did not have a physical examination at age 11, as her parents did not feel there was a need because she was healthy. At her last routine physical examination at age 12, her height was at the third percentile. She had an initial evaluation for short stature at another institution at the age of 12 years 3 months.
On physical examination, Lily’s height was 135.6 centimeters (4 feet 5.39 inches), falling at the 0.16 percentile. Her weight was 49 kilograms (108 pounds), at the 65th percentile; and her body mass index (BMI) was 26.65 kg/m2, at the 95th percentile. She had truncal weight distribution, hirsutism on her lower back, slight webbing of the neck, and cubitus valgus. Assessment of pubertal development indicated that her breasts were Tanner 4 and her pubic hair was Tanner 5. Based on the fact that she was at that 10th to 25th percentile at her 10-year visit, if she was truly advanced, then her bone age may have actually put her height more at the 3rd percentile or below; not at the 10th percentile. Laboratory tests revealed that her complete blood count, comprehensive metabolic panel, and thyroid function were within normal limits. Her insulin-like growth factor (IGF)-1 levels of 406 ng/dL were within the normal range; her IGF binding protein 3 (IGFBP3) of 5.24 mg/mL was good, and her karyotype was a normal 46XX. When Lily was initially referred for evaluation of short stature at another institution, her bone age was 15 years at a chronological age of 12 years 3 months. Upon referral for a second opinion, bone imaging was repeated which again revealed a bone age of 15 years at a chronological age of 12 years 10 months. All growth plates were fused.
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.
Reference
- Clement-Jones M, Schiller S, Rao E, et al. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet. 2000;9(5):695-702.