Background: Central precocious puberty (CPP) is a rare disorder that occurs five times more often in girls. Patients are mostly healthy children whose pubertal maturation begins at an early age: girls <8 years; and boys <9 years. Imaging usually reveals no abnormalities in girls while in boys abnormal MRI findings are more frequent.
Objective and hypotheses: We describe three cases of CPP in children with autism, a rarely reported association.
Method: Complete revision of three cases.
Results: Case 1 is a 3.4-year-old boy with autistic spectrum disorder. He started pubarche at the age of 2 years. On first endocrinology consultation with bilateral testicular volume=6 ml, pubic hair Tanner 2, and bone age (BA) of 4.5 years. LHRH stimulation test had a pubertal response. MRI revealed an hypothalamic sessil hamartoma. Case 2 is a 15-month-old girl evaluated for thelarche, pubarche and increased growth velocity; bone age: 3 years. LHRH stimulation test had a pubertal response. Pelvic ultrasound (US) showed a pubertal uterus with visible endometrium and MRI revealed an hamartoma in the tuber cinerium. Around 3 years of age, parents noticed a regression in development milestones and changes in behavior and by the age of 4 she was diagnosed with autistic spectrum disorder. Case 3 is a 7.9 years old girl diagnosed with autism at the age of 2 years. She was evaluated for bilateral telarche and pubarche during the previous 6 months; bone age: 10 years. LHRH stimulation test showed a pubertal response; pelvic US revealed a pubertal uterus with a thick endometrium.
Conclusion: All patients started triptorelin with good clinical results in the second and third cases. In the first case, although there was a good central response (LH and FSH non-responsive on LHRH stimulation test), some behavior changes associated with puberty remained. Neurophysiologic mechanisms involved in autism are not well known and changes in these pathways maybe related to CPP. This unreported association may open new avenues for further research in this area.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology