The Smallest Kid in School: Evaluating Delayed Puberty

Peter A. Lee, MD, PhD; Christopher P. Houk, MD

August 13, 2012

Pubertal Delay: Case Challenge

A 12-year-old boy was referred for an endocrinology evaluation because his primary care provider was concerned about a lack of pubertal development during a recent annual physical examination. Although the boy is currently healthy, his medical history was notable for lack of midfacial fusion, including cleft lip and palate involving the nasal structure at birth, for which he has undergone multiple surgical repairs. He was noted to be anosmic during a postoperative evaluation early in childhood.

A review of the patient's growth chart reveals that his growth had consistently been along the 10th percentile for height for his age. As he approached the age of 12 years, the usual age of pubertal onset for boys, he continued to grow at an annual rate of 5 cm/yr.

His current height and weight were at the 25th and 10th percentiles for age, respectively. Vital signs were normal. His physical examination was normal for a prepubertal male, with good results from his surgical facial repair and small, firm testes. His testes were 1 cc. in volume bilaterally, less than 1.0 cm in length, and slightly firm; the penis was prepubertal; and there was no sexual hair.

Before this visit, there had been no laboratory assessment of pubertal delay. Laboratory testing done at this visit was notable for luteinizing hormone (LH), follicle-stimulating hormone (FSH), and testosterone levels below detectable limits. The LH level rose to a peak of 0.3 mIU/mL after gonadotropin-releasing hormone (GnRH) stimulation. Other screening tests, including a complete blood count and basic metabolic panel, were normal.