Navabi Kasra, Bose Vivek
Endocrinology, Diabetes and Metabolism, University of California Los Angeles David Geffen School of Medicine, Los Angeles, USA.
Cureus. 2025 Jul 25;17(7):e88750. doi: 10.7759/cureus.88750. eCollection 2025 Jul.
Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders caused by enzymatic deficiencies in adrenal steroidogenesis, resulting in impaired cortisol biosynthesis. These deficiencies may manifest as ambiguous genitalia in neonates, salt-wasting crises, or hirsutism in women. Although CAH is typically diagnosed in infancy or early childhood, nonclassical (late-onset) forms may present later in life. Nonclassical congenital adrenal hyperplasia (NCCAH), a milder variant of 21-hydroxylase deficiency, often manifests during adolescence or adulthood and remains an underrecognized cause of hyperandrogenism in females. We report the case of a 21-year-old woman who presented with isolated hirsutism in the absence of virilization or menstrual irregularities. Laboratory evaluation revealed elevated 17-hydroxyprogesterone and androgens, and the diagnosis was confirmed with an adrenocorticotropic hormone (ACTH) stimulation test. Imaging studies were unremarkable. Treatment was deferred due to the patient's regular menstrual cycles and her desire for fertility. This case underscores the importance of hormonal evaluation in isolated hirsutism and the role of ACTH stimulation testing in the definitive diagnosis of NCCAH.
先天性肾上腺皮质增生症（CAH）是一组常染色体隐性疾病，由肾上腺类固醇生成过程中的酶缺陷引起，导致皮质醇生物合成受损。这些缺陷在新生儿中可能表现为生殖器模糊、失盐危象，在女性中可能表现为多毛症。虽然CAH通常在婴儿期或幼儿期被诊断出来，但非典型（迟发性）形式可能在生命后期出现。非典型先天性肾上腺皮质增生症（NCCAH）是21-羟化酶缺乏的一种较轻变体，常在青春期或成年期出现，仍然是女性雄激素过多未被充分认识的原因。我们报告了一例21岁女性病例，该患者表现为单纯性多毛症，无男性化或月经不规律。实验室检查显示17-羟孕酮和雄激素升高，促肾上腺皮质激素（ACTH）刺激试验确诊了该诊断。影像学检查无异常。由于患者月经周期正常且有生育愿望，治疗被推迟。该病例强调了在单纯性多毛症中进行激素评估的重要性以及ACTH刺激试验在NCCAH确诊中的作用。
