Congenital adrenal hyperplasia complicated by gonadotropin-dependent precocious puberty

BMJ Case Rep. 2024 Mar 4;17(3):e257579. doi: 10.1136/bcr-2023-257579.

Abstract

Precocious puberty, characterised by the early appearance of secondary sexual characteristics, poses challenges in diagnosis and management. Here, we describe a case of precocious puberty diagnosed in a boy in middle childhood, who presented with progressive phallus enlargement, pubic hair development and increased aggressive behaviour. Hormonal evaluation confirmed the diagnosis of congenital adrenal hyperplasia (CAH), complicated by gonadotropin-dependent precocious puberty. The case highlights the importance of assessment of testicular volume in a patient presenting with precocious puberty. Symmetrical testicular enlargement in a patient with CAH suggests premature activation of the hypothalamic-pituitary-gonadal axis. The patient received glucocorticoid therapy to suppress androgen production related to CAH and gonadotropin-releasing hormone analogue therapy to control premature activation of the hypothalamic-pituitary-gonadal axis. Follow-up visits showed regression of secondary sexual characteristics and improved growth velocity.

Keywords: Drugs: endocrine system; Pituitary disorders.

Publication types

  • Case Reports

MeSH terms

  • Abdominal Wall*
  • Adrenal Hyperplasia, Congenital* / complications
  • Adrenal Hyperplasia, Congenital* / diagnosis
  • Adrenal Hyperplasia, Congenital* / drug therapy
  • Aggression
  • Child
  • Gonadotropins
  • Humans
  • Male
  • Puberty, Precocious* / diagnosis
  • Puberty, Precocious* / drug therapy
  • Puberty, Precocious* / etiology

Substances

  • Gonadotropins