Puberty Today, Gone Tomorrow: Transient Refractory Central Precocious Puberty in a Toddler with End-Stage Kidney Disease.

Abstract

Novel Insights: - There are only three reported cases of precocious puberty in boys with CKD - Hypothalamic dysfunction due to uremia, and disordered renal clearance of LH, may lead to central precocious puberty, which resolves after uremia is corrected, e.g., after kidney transplant. - Increased drug clearance via peritoneal dialysis and/or an effect of uremia may lead to a sub-optimal response to leuprolide therapy. - Further studies are needed to characterize the relationship of CKD and peritoneal dialysis on puberty.

Introduction: The onset of puberty is typically delayed in children with chronic kidney disease (CKD), with only three reported cases of precocious puberty in boys with CKD.

Case presentation: We report the case of a boy with end-stage kidney disease secondary to posterior urethral valves who, while undergoing peritoneal dialysis, presented at 17 months with central precocious puberty characterized by clinical signs of testicular and penile enlargement, pubic hair, and acne; rapid linear growth with advanced bone age; and pubertal luteinizing hormone (LH) and testosterone levels. Monthly leuprolide injections were commenced at 24 months with no pubertal or biochemical suppression thereafter, along with continued rapid bone-age advancement through 32 months. He then received a deceased-donor kidney transplant at 33 months of age, with good graft function. Within 2 months, he was noted to have prepubertal GnRH-stimulated LH and testosterone levels. Leuprolide injections were discontinued at that time with no further progression of puberty. The patient is now 48 months with minimal further bone-age advancement, and consistently prepubertal LH and testosterone levels.

Conclusion: Our case demonstrates the development of precocious puberty due to premature activation of the hypothalamic-pituitary-testicular axis, presumably secondary to uremia and/or disordered renal clearance of gonadotropins, which was refractory to standard management with a gonadotropin-releasing hormone agonist, perhaps due to excessively rapid removal by peritoneal dialysis and/or the uremic state itself. Kidney transplantation led to a correction of uremia and a return to the prepubertal state.