Prenatal and accurate perinatal diagnosis of type 2 H or ductular duplicate gallbladder.

BACKGROUND: Double gallbladder is a rare biliary anomaly. Perinatal diagnosis of the disorder has been reported in only 6 cases, and in 5 of them the diagnosis was based on ultrasound imaging only. However, the ultrasound technique alone does not provide a sufficiently precise description of cystic ducts and biliary anatomy, an information that is crucial for a correct classification and for a possible future surgery. CASE PRESENTATION: At 21 weeks of gestational age of an uneventful pregnancy in a 38 year old primipara mother, a routine ultrasound screening detected a biliary anomaly in the fetus suggestive of a double gallbladder. A neonatal abdominal ultrasonography performed on postnatal day 2 confirmed the diagnosis. On day 12 the newborn underwent a Magnetic Resonance Cholangiopancreatography (MRCP) that clearly characterized the anatomy of the anomaly: both gallbladders had their own cystic duct and both had a separate insertion in the main biliary duct. CONCLUSIONS: We report a case of early prenatal suspected duplicate gallbladder that was confirmed by a neonatal precise diagnosis of a Type 2, H or ductular duplicate gallbladder, using for the first time 3D images of Magnetic resonance cholangiopancreatography in a newborn. An accurate anatomical diagnosis is mandatory in patients undergoing a possible future cholecystectomy, to avoid surgical complications or reoperations. Therefore, in case of a perinatal suspicion of a double gallbladder, neonates should undergo a Magnetic resonance cholangiopancreatography. A review of the Literature about this variant is included.

Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome.

OBJECTIVE: To determine the genetic cause of primary amenorrhea in a 46,XY woman. DESIGN: Case report. SETTING: Centre of Gynecological Endocrinology and Cytogenetics and Molecular Genetics Laboratory of university medical school. PATIENT(S): A 19-year-old woman referred for primary amenorrhea. INTERVENTION(S): Clinical, endocrinologic, and ultrasonographic investigation and SRY mutation analysis. MAIN OUTCOME MEASURE(S): Hormone profile (LH, FSH, PRL, leptin, E(2), 17alpha-hydroxyprogesterone, 3alpha-androstanediol glucuronide), ultrasonographic evaluation, clinical follow-up. RESULT(S): A new SRY sporadic mutation due to a single nucleotide insertion at codon 13 position 38 (38-39insA) was found in a 46,XY woman with sex reversal. This mutation determined a frameshift of the reading frame sequence and a protein truncation at codon 16. Clinical and endocrinologic data are reported. CONCLUSION(S): This is a new rare case of a single nucleotide insertion affecting the SRY gene in 46,XY females with sex reversal. This new mutation should be considered in genetic counseling.