Clinical characteristics of 21-hydroxylase deficiency in 22 cases / 中国基层医药

ABSTRACT

Objective:To investigate the clinical characteristics, diagnosis, and treatment experience of 21-hydroxylase deficiency, with the goal of enhancing the clinical doctors' understanding and diagnosis and treatment of this disease.Methods:A total of 22 patients with 21-hydroxylase deficiency who received treatment in People's Hospital of Xinjiang Uygur Autonomous Region from 2014 to 2022 were included in this study. The clinical data of patients with different types of 21-hydroxylase deficiency were analyzed. Their treatment outcomes were followed up.Results:The male-to-female ratio was 7:15, and the average age of the patients was 13.0 (4.8, 23.0) years. Female patients exhibited clitoral enlargement, pigmentation, infrequent menstruation, amenorrhea, hirsutism, acne, accelerated growth, infertility, and vomiting. Male patients exhibited precocious puberty, pigmentation, infertility, nausea, and vomiting. Children with salt deficiency exhibited electrolyte disorders and acid-base imbalance changes, including hyponatremia, hyperkalemia, hypotension, and metabolic acidosis. All patients with confirmed 21-hydroxylase deficiency were treated with glucocorticoid/mineralocorticoid replacement therapy. Five female patients also underwent external genital correction surgery. Among the 10 patients who were followed up, 5 female patients experienced regular or gradual resumption of menstruation, but the improvement in sex hormone levels was not significant.Conclusion:Newborns with gastrointestinal symptoms accompanied by electrolyte disorders, women with hyperandrogenism, male children with precocious puberty, and adult men with infertility should be screened for 21-hydroxylase deficiency. Upon diagnosis, hormone replacement therapy should be conducted to improve prognosis. Genetic testing should be performed as much as possible and regular follow-ups should be conducted to ensure normal adolescent development and good fertility.