Kaduskar Prashant, Suryanarayana K M, Babu Prakash, Mysorekar Vijaya
Senior Resident,MS Ramaiah Medical College, Bengaluru, Karnataka.
Senior Professor and HOD, Department of Endocrinology, MS Ramaiah Medical College, Bengaluru, Karnataka.
J Assoc Physicians India. 2018 Dec;66(12):84-85.
46 XX ovotesticular DSD is a rare disorder. It presents with cryptorchidism, hypospadias or ambiguous genitalia at birth, gynaecomastia in adolescent stage or infertility in adult age. We report here a 20 year old phenotypically male who presented with gynaecomastia and found to have testis on right side and left inguinoscrotal swelling consisting of ovary, uterus and fallopian tubes. Evaluation revealed SRY negative 46 XX karyotype. He underwent surgical removal of ovary and mullerian structures. The highlight of case is development of testicular tissue in absence of SRY gene.
46 XX 卵睾性发育障碍是一种罕见的疾病。患者出生时表现为隐睾、尿道下裂或生殖器模糊,青春期出现男性乳房发育,成年后出现不孕。我们在此报告一名20岁的男性患者,表现为男性乳房发育,右侧发现睾丸,左侧腹股沟阴囊肿胀,内有卵巢、子宫和输卵管。评估显示SRY阴性的46 XX核型。他接受了卵巢和苗勒氏结构的手术切除。该病例的亮点是在没有SRY基因的情况下睾丸组织的发育。