Children with sickle cell disease: growth and gonadal function after hematopoietic stem cell transplantation

J Pediatr Hematol Oncol. 2007 Jul;29(7):445-50. doi: 10.1097/MPH.0b013e31806451ac.

Abstract

The aim of this study is to describe the growth, pubertal development, and gonadal function of a cohort of 30 sickle cell disease children who underwent bone marrow transplantation. They all received the standard pretransplant conditioning regimen of busulfan (14 or 16 mg/kg) and cyclophosphamide (200 mg/kg). Growth was normal both before and after transplant. Seven out of 10 girls had severe ovarian failure and requirement for estrogen replacement. Three out of 10 girls recovered some ovarian function posttransplant, with spontaneous pubertal development, menses, and 1 successful normal pregnancy. Follicle-stimulating hormone (FSH) serum levels were very high during spontaneous puberty and slowly normalized thereafter in these 3 patients. The 3 girls with ovarian function recovery differed from the 7 others by the lower busulphan dose of the conditioning regimen they received (14 rather than 16 mg/kg). All boys showed spontaneous pubertal development. However, most of them had small testis and elevated serum FSH levels, reflecting germinal epithelium damage. Testosterone level was low normal and luteinizing hormone elevated, reflecting Leydig cell insufficiency. In conclusion, 7/10 girls had complete gonadal failure and most of the boys had spontaneous puberty but germinal epithelial failure. Serum FSH levels showed important variations over time in the same patient.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Anemia, Sickle Cell / physiopathology
  • Anemia, Sickle Cell / therapy*
  • Body Height*
  • Child
  • Child, Preschool
  • Female
  • Follicle Stimulating Hormone / blood
  • Gonads / physiology*
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Longitudinal Studies
  • Male
  • Puberty / physiology

Substances

  • Follicle Stimulating Hormone