Introduction: Premature pubarche is the most frequent diagnosis when children present moderate pubic hair development, but other diagnosis must be ruled out. We report the case of a child with premature pubarche with hormonal results in the physiological range, corresponding to an adrenal tumor.
Observation: A girl aged 6.8 years consulted for precocious pubertal development (pubic hair stage 3, breast stage 2), with moderate acne. There was no virilization. Her height had changed from 0.8 to 1.8 SD score within 1 year. Bone age was 7.5 years. The 17-hydroxyprogesterone level was 3.2 ng/mL, and 17hydroxyprogesterone and 11-deoxycortisol responses to an ACTH test were normal. The LH and FSH peak to GnRH test were 0.9 U/l and 5.8 U/l, respectively. Uterine length was 23 mm on pelvic ultrasound, ovaries were normal in size. Circulating S-DHEA was 1.9 mg/l, and testosterone 0.3 ng/ml. Breast development resumed spontaneously within 3 months. Because the clinical presentation was more marked than usually, associating an accelerated growth rate and a detectable testosterone level, an adrenal tomodensitometry was performed, showing a left adrenal 3.5 cm mass. The child underwent laparoscopic adrenalectomy. The tumor histopathological analysis diagnosed an encapsulated adrenal adenoma. The level of all circulating androgens returned to normal after the removal of the adrenal mass.
Conclusion: Adrenal tomodensitometry is not to be performed in all cases of precocious pubic hair development in subjects aged more than 6 years. However, it is advised when the clinical presentation is unusually active (here accelerated growth rate), even if S-DHEA and testosterone levels are in the normal range for a physiological premature pubarche.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology