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Central precocious puberty and chronic renal failure: a reversible condition post renal transplantation
K C Loh1, S R Salisbury, P Accott
1Department of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.
Insights
A boy with prune belly syndrome and chronic kidney disease experienced reversible central precocious puberty. Successful kidney transplant resolved the condition, unlike leuprolide therapy.
Area of Science:
- Pediatric Endocrinology
- Nephrology
- Genetics
Background:
- Prune belly syndrome is a rare congenital disorder characterized by abdominal muscle deficiency, urinary tract abnormalities, and undescended testes.
- Chronic renal failure in children often leads to delayed puberty and growth suppression.
- Central precocious puberty involves early activation of the hypothalamic-pituitary-gonadal axis.
Observation:
- A 3-year-old boy with prune belly syndrome and chronic renal failure developed central precocious puberty.
- He exhibited elevated testosterone and luteinizing hormone (LH) levels, consistent with early puberty, despite peritoneal dialysis.
- Initial treatment with LHRH-agonist leuprolide showed an incomplete response.
Findings:
- The patient presented with testicular enlargement, pubic hair development, and hormonal profiles indicative of precocious puberty.
- Hyperprolactinemia was noted, but other endocrine functions and cranial MRI were normal.
- Following a successful renal transplant, serum LH and testosterone levels normalized to prepubertal ranges, and hyperprolactinemia resolved.
Implications:
- This case highlights a unique instance of reversible central precocious puberty in a child with chronic renal failure.
- It suggests that successful renal transplantation may reverse or resolve certain endocrine abnormalities associated with uremia.
- The findings warrant further investigation into the complex interplay between renal failure, hormonal regulation, and pubertal development.
Abstract:
A 3 year-old boy with chronic renal failure associated with prune belly syndrome who developed central precocious puberty is described. He had been maintained on cyclic peritoneal dialysis from age 13 months with creatinine levels of 400-600 mumol/l. Increased linear growth rate probably began at 18 months, and by 38 months of age he had testicular enlargement and pubic hair consistent with Tanner stage 2. Elevated levels of serum testosterone (3.6 nmol/l; normal < 0.7 nmol/l) and luteinizing hormone (LH) (2.8 IU/l; normal < 1.0 IU/l) were demonstrated with a pubertal response to luteinizing hormone-releasing hormone (LHRH) stimulation (peak LH 43.5 IU/l). Other endocrine tests demonstrated hyperprolactinemia (170 micrograms/l; normal 3.4-22 micrograms/l), but normal pituitary-thyroid and pituitary-adrenal functions and normal cranial MR imaging. Despite LHRH-agonist therapy with leuprolide over the next 8 months, he showed an incomplete response with only partial inhibition of basal LH and testosterone levels, and continued significant increments in height standard deviation scores (Ht-SDS) and bone age estimates. However, the sexual precocity appeared fully reversible following a successful living-related renal transplant at age 50 months. Despite discontinuation of leuprolide treatment post-operatively, there was a full reversal of his serum LH and testosterone to a prepubertal profile as well as normalization of the serum prolactin levels. Whereas most boys with chronic renal failure show delayed pubertal development and suppressed linear growth, our patient presents a unique phenomenon of reversible central precocious puberty. The effects of leuprolide therapy in the presence of a uremic milieu and the outcome of successful renal transplantation on sexual precocity are described.