Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0016199 (flank pain)
 2,189 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Persistent Mullerian duct syndrome is a rare entity and usually presents with common symptoms of undescended testis and hernia. The syndrome is caused by an insufficient amount of Mullerian inhibiting substance or due to the insensitivity of the target organ to Mullerian inhibiting substance. Polysplenia is a rare congenital disease manifested by multiple small accessory spleens. The association of these two entities, Persistent Mullerian duct syndrome and polysplenia, is rare and has not been reported in the literature. We reported a case of a 27 years old male presented with complains of right flank pain and nausea. Ultrasound showed right ureteric calculus with hydronephrosis and elongated soft tissue mass posterior to bladder. Contrast enhanced Computed Tomography showed soft tissue suggestive of infantile uterine structure with multiple splenculi and short pancreas. He was diagnosed as Persistent Mullerian duct syndrome with unilateral cryptorchidism, polysplenia and short pancreas, coincidentally detected while evaluating for ureteric colic. He underwent Ureteroscopic Lithotripsy with stenting for ureteric calculus, however, he refused laparotomy with excision of mullerian structures. Keywords: cryptorchidism; persistent mullerian duct syndrome; short pancreas.
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PMID:Persistent Mullerian Duct Syndrome with Polysplenia and Short Pancreas: A Case Report. 3147 47