Rajiv Gandhi Centre for Diabetes and Endocrinology, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, Uttar Pradesh, India
Endocrinology and Metabolism, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India.
BMJ Case Rep. 2024 Mar 4;17(3):e257579. doi: 10.1136/bcr-2023-257579.
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.
性早熟是指第二性征过早出现,这给诊断和管理带来了挑战。在这里,我们描述了一例在儿童中期被诊断为性早熟的男孩病例,该男孩的阴茎逐渐增大,阴毛发育,并出现攻击性增强等症状。激素评估证实了先天性肾上腺增生症(CAH)的诊断,同时并发促性腺激素依赖性性早熟。该病例强调了在性早熟患者中评估睾丸体积的重要性。CAH 患者出现双侧睾丸对称性增大,提示下丘脑-垂体-性腺轴过早激活。该患者接受了糖皮质激素治疗以抑制与 CAH 相关的雄激素产生,并接受了促性腺激素释放激素类似物治疗以控制下丘脑-垂体-性腺轴的过早激活。随访显示第二性征消退,生长速度改善。