Muscle Pain in a Woman with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Resolved with Testosterone Therapy: A Case Report with 10 Years of Follow-Up

    February 2026 in “ Frontiers in Endocrinology
    Joanna Hubska, Paulina Jaszczuk, Joanna Betlejewska, Natalia Bylińska, Małgorzata Bobrowicz, Beata Rak, Urszula Ambroziak
    TLDR Testosterone therapy improved symptoms in a woman with congenital adrenal hyperplasia.
    This case report describes a 32-year-old woman with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, who experienced severe muscle pain, weakness, reduced libido, and depressive symptoms due to chronic glucocorticoid overtreatment leading to androgen deficiency. Despite normal neuromuscular evaluations, her symptoms were linked to suppressed adrenal androgens. Low-dose testosterone therapy (25 mg every 4 weeks) was introduced, resulting in significant improvement in her symptoms within 3 months, with no adverse effects over a 10-year follow-up. This case highlights the importance of recognizing androgen deficiency in women with CAH and suggests that individualized testosterone replacement can be beneficial in managing long-term symptoms.
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