Persistent urogenital sinus in siblings due to a maternal adrenal neoplasm: A case report

• Published in: Journal of pediatric surgery case reports 2024-02, Vol.101, p.102766, Article 102766
• Main Authors: Ukida, Asami, Nakahara, Yasuo, Furujo, Mahoko, Takada, Chika, Hitomi, Kosuke, Mukai, Wataru, Takahashi, Yusuke, Goto, Takafumi, Aoyama, Koji
• Format: Article
• Language: English
• Subjects: Case report; Maternal adrenal neoplasm; Persistent urogenital sinus; Sibling case
• ISSN: 2213-5766; 2213-5766
• DOI: 10.1016/j.epsc.2023.102766

The most prevalent cause of virilization in newborns is congenital adrenal hyperplasia. A very infrequent cause, on the other hand, is a virilizing maternal adrenal tumor. We present two 46XX siblings with virilization of the external genitalia due to androgen exposure secondary to a maternal androgen-producing tumor. Two female siblings born 8 years apart had ambiguous genitalia and persistent urogenital sinus (UGS) at birth. The older sister underwent a clitoroplasty and vaginoplasty at the age of 1 year. At the age of 11 years, she underwent an MRI that confirmed the presence of two ovaries, one uterus and one vagina. An additional vaginoplasty was done at the age of 17 years to dilate the vaginal orifice. She currently identifies as a female and is sexually active. The younger sister underwent a clitoroplasty and vaginoplasty at the age of 2 years. She underwent an MRI at the age of 16 years that confirmed the presence of two ovaries, one uterus and one vagina. She underwent vaginoplasty and urogenital sinus mobilization at the age of 17 years. When the patients were 16 and 8 years of age, the mother was diagnosed with an androgen-secreting left adrenal adenoma. At the time of the diagnosis the hormone levels were androstenedione 19 ng/ml (normal: 0.28–1.35), dehydroepiandrosterone-sulfate 2950 μg/dl (normal: 58–327), and testosterone 4.1 pg/ml (normal: 0.3–1.8). These findings explain the ambiguous genitalia of the female siblings. The mother underwent an uneventful complete resection of the tumor. In a case of female siblings with disorders of sex development of unknown origin, a maternal source of excess androgens must be ruled out. The type and timing of the genital reconstruction must be evaluated on a case-by-case basis and include the patient in the decision-making process.