Clinical Essentials Case of the Month: A Pediatric Puzzle

PediatricESAP20152016

Test your clinical knowledge with the FREE Case of the Month! This month highlights Pediatric ESAP 2015/16, available on the Endocrine Society’s Center for Learning.

A 5-year-old boy presents for the evaluation of precocious puberty. Medical history is notable for severe, chronic eczema requiring topical corticosteroid treatment. Review of growth records shows that growth velocity is 9.5 cm per year. On examination, vital signs are normal. On skin examination, he has mild facial acne, and there are no café-au-lait macules. Testicular volume is 1 mL bilaterally. The scrotum is hyperpigmented, and the phallus is enlarged (pubis to glans length is 7.5 cm, >90th percentile for age). Pubic hair development is Tanner stage 3. The family reports that he has aggressive behavior. Bone age is 7.5 years.

Abdominal CT reveals no liver or adrenal anomalies.

Laboratory test results:
LH = 0.05 mIU/mL (0.02-0.3 mIU/mL)
FSH = 1.1 mIU/mL (<6.7 mIU/mL)
Total testosterone = 325 ng/dL (<10 ng/dL)
17-Hydroxyprogesterone = 10 ng/dL (<110 ng/dL)
DHEA-S = 25 mcg/dL (13-83 mcg/dL)
Electrolyte panel, normal

What would your diagnosis be?  See the possible diagnoses.

You may also like

  • Childhood Sedentariness May Cause Premature Liver Damage in Young Adulthood

    Children who are sedentary for more than six waking hours a day have a significantly increased risk of severe fatty liver disease and liver cirrhosis by young adulthood, according to a study presented at ENDO 2024 and published in Nature’s npj Gut and Liver. “We found that this relationship between sedentariness and liver damage is likely…

  • First Clinical Trial of Vosoritide for Children with Hypochondroplasia Shows Increased Growth

    The first global phase 2 study of vosoritide showed an average increased growth rate of 1.8 cm per year in children with hypochondroplasia, a genetic cause of short stature in children, according to a paper recently published in eClinicalMedicine. The clinical trial is funded by BioMarin. Researchers led by Andrew Dauber, MD, chief of Endocrinology at Children’s…

Find more in