Endocrine Abstracts

JOINT3274

Objective: This study describes the clinical characteristics of a child with aromatase deficiency.

Methods: Clinical data of a child with aromatase deficiency were collected, including physical examination, gonadal axis hormone levels, genetic testing results, and surgical treatment.

Results: The patient, socially identified as male, was admitted with the chief complaint of "abnormal external genitalia for 5 months." Physical examination revealed clear consciousness, no significant abnormalities in the heart or lungs, soft abdomen, and ambiguous external genitalia with clitoral hypertrophy resembling a penis, urethral opening at the scrotum, bifid scrotum resembling labia, and no visible vaginal opening. Auxiliary examinations showed a karyotype of 46,XX, negative SRY gene, anti-Müllerian hormone (AMH) 0.717 ng/ml, inhibin B 104 pg/ml, testosterone 8.6 ng/dl, estradiol 36.7 pg/ml, prolactin 16.00 ng/ml, luteinizing hormone (LH) 0.33 IU/l, human chorionic gonadotropin (hCG) <1.00 mIU/ml, follicle-stimulating hormone (FSH) 3.65 IU/l, dehydroepiandrosterone sulfate (DHEA-S) <15.0 µg/dl, and normal levels of cortisol, androstenedione, and adrenocorticotropic hormone (ACTH). Color Doppler ultrasound revealed a pelvic cyst measuring approximately 43.62.3 cm (likely ovarian in origin). The patient underwent laparoscopic gonadal exploration and biopsy, left ovarian cystectomy, cystoscopy, clitoral reduction, and vulvoplasty. Whole-exome sequencing identified compound heterozygous variants in the CYP19A1 gene (c.1352T>C and c.1304G>A), confirming the diagnosis of "aromatase deficiency." Postoperative pathology reported: (left ovary) serous cystadenoma; (right ovary) ovarian stroma and immature oocytes, consistent with benign malformation; (ovarian cyst) serous cystadenoma with a small amount of ovarian follicular cells.

Conclusion: This study reports a case of aromatase deficiency in a child presenting with an ovarian cyst. Surgical removal of the cyst revealed a serous cystadenoma on pathology.

Keywords: aromatase deficiency, CYP19A1 gene, ovarian cyst, serous cystadenoma, ambiguous genitalia.