Dyschronism Between the Anatomical Growth of the Sex Organ and Gender Caused by Hormonal Imbalance: A Very Rare Case
Year: 2025
Type: article
Abstract: Introduction: Congenital Adrenal Hyperplasia (CAH) is a rare autosomal recessive disorder, most commonly caused by 21-hydroxylase deficiency, leading to impaired cortisol and aldosterone synthesis and excess androgen production. It manifests with varying degrees of virilization, salt-wasting crises, or ambiguous genitalia. Early diagnosis and multidisciplinary management are crucial to improving patient outcomes and quality of life.Case Presentation: A 17-year-old female presented with primary amenorrhea and mild virilization, including facial hair growth and underdeveloped breast tissue. Physical examination and Tanner staging confirmed the ambiguous genitalia and incomplete secondary sexual development. Elevated testosterone levels (3.01 ng/mL; normal: 0.1–0.9), normal imaging of internal genitalia and observed during laparoscopy within normal limit were consistent with non-classical CAH, likely due to 21-hydroxylase deficiency.Discussion: Non-classical CAH, caused by a mild 21-hydroxylase deficiency due to CYP21A2 mutations, is characterized by late-onset hyperandrogenic symptoms such as hirsutism, amenorrhea, and mild virilization. Diagnosis requires a combination of clinical evaluation, laboratory testing, and imaging, with 17-hydroxyprogesterone measurement as the diagnostic standard. Management includes glucocorticoid therapy to suppress androgen excess, along with genetic counseling, fertility support, and psychosocial care.Conclusion: This case emphasizes the diagnostic challenges of non-classical CAH, particularly in resource-limited settings. A multidisciplinary approach, including medication, hormonal therapy and psychosocial support, is essential for enhancing the physical and psychosocial well-being of affected individuals.
Source: Jurnal Kedokteran Syiah Kuala
Authors: Sofyan Qadri, Rusnaidi Rusnaidi, Rajuddin Rajuddin, Tgk. Puspa Dewi
Institution: Universitas Syiah Kuala
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7092297558
FWCI:
Cites:
Cited by:
Related to: