Meucci Rosaria, Bengala Mario, Manenti Guglielmo, Montesanto Francesca, Palombi Chiara, Rufi Flavia, Goffredo Carolina, Lombardo Eleonora, Serio Maria Lina, Floris Roberto
UOC Diagnostica per immagini, Policlinico Tor Vergata, University Rome "Tor Vergata", Rome, Italy.
Genetica Medica, Policlinico Tor Vergata, University Rome "Tor Vergata", Rome, Italy.
JBRA Assist Reprod. 2023 Jun 22;27(2):332-336. doi: 10.5935/1518-0557.20220072.
Disorders of sexual differentiation are rare congenital conditions in which the chromosomal, anatomic or gonadal sex development is atypical. In some of these patients, chromosomal sex is inconsistent with phenotypic sex; in other cases, the phenotype is not classifiable as either male or female, resulting in a condition known as ambiguous genitalia. These are very complex cases in which diagnostic certainty is not always possible. A multidisciplinary team including geneticists, pediatricians, radiologists is certainly needed to approach these patients. We present the case of an 18-year-old boy with an XY karyotype, ambiguous genitalia, uterus and blind-ending vaginal pouch. The patient had not been previously diagnosed with a disorder of sex development. The patient underwent a panel of genetic analyses and diagnostic imaging investigations. Magnetic resonance imaging was decisive for the identification of the internal genital organs, especially the uterus. At the end of investigations, the patient was diagnosed with 46,XY disorder of sex development. Our purpose is to underline the role of imaging in the diagnosis and management of congenital disorders of sex differentiation.
性分化障碍是罕见的先天性疾病，其中染色体、解剖学或性腺性发育是不典型的。在这些患者中的一些，染色体性别与表型性别不一致；在其他情况下，表型不能归类为男性或女性，导致一种称为两性生殖器畸形的情况。这些是非常复杂的病例，诊断确定性并非总是可行的。处理这些患者肯定需要一个包括遗传学家、儿科医生、放射科医生在内的多学科团队。我们报告一例18岁男性患者，其核型为XY，患有两性生殖器畸形、子宫和盲端阴道囊。该患者此前未被诊断为性发育障碍。患者接受了一系列基因分析和诊断性影像学检查。磁共振成像对于识别内生殖器器官尤其是子宫起了决定性作用。在检查结束时，患者被诊断为46,XY性发育障碍。我们的目的是强调影像学在先天性性分化障碍的诊断和管理中的作用。
