Case report: A case of Rabson-Mendenhall syndrome: long-term follow-up and therapeutic management with empagliflozin.

Background: Rabson-Mendenhall syndrome (RMS), a rare disorder characterized by severe insulin resistance due to biallelic loss-of-function variants of the insulin receptor gene (INSR), presents therapeutic challenges (OMIM: 262190). This case study explores the efficacy of adjunctive therapy with sodium-glucose cotransporter 2 inhibitors (SGLT2is) in the management of RMS in an 11-year-old male patient with compound heterozygous pathogenic variants of INSR. Methods: Despite initial efforts to regulate glycemia with insulin therapy followed by metformin treatment, achieving stable glycemic control presented a critical challenge, characterized by persistent hyperinsulinism and variable fluctuations in glucose levels. Upon the addition of empagliflozin to metformin, notable improvements in glycated hemoglobin (HbA1c) and time in range (TIR) were observed over a 10-month period. Results: After 10 months of treatment, empagliflozin therapy led to a clinically meaningful reduction in HbA1c levels, decreasing from 8.5% to 7.1%, along with an improvement in TIR from 47% to 74%. Furthermore, regular monitoring effectively averted normoglycemic ketoacidosis, a rare complication associated with SGLT2 inhibitor therapy. Conclusion: This case highlights the potential of SGLT2i as adjunctive therapy in RMS management, particularly in stabilizing glycemic variability. However, further research is warranted to elucidate the long-term efficacy and safety of this therapeutic approach in RMS and similar insulin resistance syndromes.

Double uterus with obstructed hemivagina and ipsilateral renal agenesis: pelvic anatomic variants in 87 cases.

STUDY QUESTION: What are the anatomic variants (and their frequencies) of double uterus, obstructed hemivagina and ipsilateral renal agenesis? SUMMARY ANSWER: Most cases examined (72.4%) were of the classic anatomic variant of the Herlyn-Werner-Wunderlich syndrome (with didelphys uterus, obstructed hemivagina and ipsilateral renal agenesis) but the 27.6% of cases are of a rare variant of the syndrome (with uterus septum or cervical agenesis), showing relevant clinical and surgical implications. WHAT IS KNOWN ALREADY: The extreme variability of anatomic structures involved in this syndrome (both uterus, cervico-vaginal and renal anomalies) is well known, even if a complete and uniform analysis of all its heterogeneous presentations in a large series is lacking. STUDY DESIGN, SIZE, DURATION: This is a retrospective study with 87 patients referred to our third level referral center between 1981 and 2011. PARTICIPANTS/MATERIALS, SETTING, METHODS: We analyzed the laparoscopic and chart records of 87 women, who referred to our institute with double uterus, unilateral cervico-vaginal obstruction and ipsilateral renal anomalies. MAIN RESULTS: Sixty-three of 87 patients had the more classic variant of didelphys uterus with obstructed hemivagina; 10/87 patients had septate bicollis uterus with obstructed hemivagina; 9/87 patients had bicornuate bicollis uterus with obstructed hemivagina; 4/87 patients had didelphys uterus with unilateral cervical atresia; 1/87 patients had bicornuate uterus with one septate cervix and unilateral obstructed hemivagina. LIMITATIONS: This is a retrospective study with a long enrolling period (30 years). WIDER IMPLICATIONS OF THE FINDINGS: New insights in the anatomic variants of this rare syndrome with their relevant surgical implications.

A case of metabolic syndrome in an adolescent: diagnosis and management.

The widespread of obesity in childhood is a rising cause of the development of metabolic syndrome, the prevalence of which is clearly increasing. The complexity of the frequent concurrence between metabolic syndrome and type 2 diabetes requires the therapeutic approach to be multidisciplinary and based on the stabilization of glycemia, monitoring of arterial pressure and of the lipid profile, and on the development of an appropriate hypocaloric diet and exercise plan. Moreover, the therapeutic objective of stablilizing glycemia may be achieved with the administration of metformin, the only oral hypoglycemic agent approved for type 2 diabetes children. We here describe a clinical case which highlights the complexities of the diagnostic approach.

Magnetic resonance imaging in the preoperative assessment of Mayer-Rokitansky-Kuster-Hauser syndrome.

PURPOSE: We evaluated the accuracy of magnetic resonance imaging (MRI) in young women with primary amenorrhoea with suspected Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome (congenital absence of both vagina and uterus and presence of normal ovaries). MATERIALS AND METHODS: Fifty-eight women (age range 14-30 years, mean 20.9) with primary amenorrhea were studied with MRI performed with a 1.0-T superconducting magnet (Philips NT Intera). All patients were examined in the supine position using a phased-array coil (four channels). Turbo spin-echo T2-weighted images were acquired in the sagittal, axial and coronal planes with the following parameters: TR 4,750-6,686, TE 100-120, FOV 350-375, 4- to 5-mm sections with a 0.4- to 0.5-mm intersection gap and NSA 6. T1-weighted images were acquired in the axial and coronal planes (TR 470, TE 15, FOV 350, 4-mm sections with a 0.6-mm intersection gap, NSA 3). Two experienced radiologists evaluated all the examinations in consensus to assess the presence, position and morphology of vagina, uterus, ovaries and kidneys and any pelvic abnormalities. MRI results were judged on the basis of laparoscopic findings in 41 patients. RESULTS: MRKH syndrome was confirmed in 56 patients with 100% sensitivity and specificity. MRI identified bilateral Müllerian buds in 34/56 (61%) and unilateral in 10/56 (18%) patients. MRI sensitivity was 81.42%, and there was good agreement with laparoscopy (k=0.55) and full agreement in the identification of cavitation between MRI and intraoperative sonography. Both ovaries were visualised in 54 patients, with regular morphology in 46 (82.1%), polycystic in 10 (17.8%), pelvic in 47 (83.6%) and extrapelvic in eight (14.5%). We found associated abnormalities of the upper urinary tract in six patients (solitary kidney in four and ptosis in two). CONCLUSIONS: MRI is a useful diagnostic tool in the preoperative evaluation of MRKH syndrome and is less expensive and invasive than laparoscopy. Strong cooperation between radiologists and surgeons is highly recommended.

Actual controversies in twin delivery: from the analysis of the case histories to a reasoned protocol.

AIM: Twin pregnancy has to be considered a risk pregnancy. One of its most controversial aspects is delivery. There is no agreement on the following topics: gestational age at term (GA), mode of delivery, use of epidural analgesia or oxytocic acceleration, impact of chorionicity and amnionicity. The aim of this study was to develop a twin delivery management protocol. METHODS: A retrospective study over a cohort population of 481 twin deliveries that occurred in the Department of Obstetrics of the San Raffaele Hospital of Milan (Italy) from 1996 to 2007 was conducted, and the results were compared with those present in literature. RESULTS: Management of twin pregnancies that exceed the 37 week is controversial. There is an inclination towards fixing bichorionic and monochorionic pregnancy terms at 38 and 35 weeks respectively. In our case history, 73.8% of monochorionic and 15% of bichorionic pregnant women delivered after the 35 and 38 week respectively, without repercussions on the neonatal outcome. A longer gestational age appears to decrease the occurrence of lower Apgar scores and neonatal morbidity. This study, which exclusively considered twin pregnant women with both fetuses in cephalic presentation eligible for a vaginal delivery, did not find any significant differences in neonatal outcome among the types of deliveries. Moreover, the authors observed that the average maternal blood loss in cesarean section (CS) is significantly greater than that of vaginal deliveries. CONCLUSIONS: In consideration of its safety for mother and fetuses, vaginal delivery of two cephalic fetuses at 38 and 35 weeks for bichorionic and monochorionic pregnancies respectively may be considered as a valid alternative to elective cesarean section.

[Photographic moiré method for preliminary diagnosis of spine deformity (author's transl)]. / Il metodo fotografico moiré valido ausilio per la diagnosi precoce di deformità vertebrali.

Moiré topography is a biostereometric method which produces a three-dimensional image of the shape of the trunk. In structure scoliosis an asymmetry of the two halves of the back is seen. This method has been studied and the range of the asymmetry of the moiré pattern has been compared with clinical observations and X-ray findings in case with structural scoliosis. Because of the sensitivity of the moiré method an asymmetry of at least half fringe interval could be regarded as a positive result. All the observed asymmetries less than one fringe interval had a lateral deviation of the spine of less than 10 degrees according to Cobb when W-ray examined. The moiré method seems to be very suitable for the screening of structural scoliosis, owing to: 1) its ability to detect and document even small deformities by photography; 2) the simplicity of the technique; 3) the possibility of documenting the condition of the back for comparison with subsequent examinations; 4) non-invasive for the patient.

Technique of anatomical reduction of lumbar spondylolisthesis and its surgical stabilization.

This is a report of a method for treatment of spondylolisthesis based upon: (1) preoperative reduction of the olisthesis by plaster casts; (2) fixation of the reduction by posterior arthrodesis, accompanied by a system of instrumentation which has been developed by the authors. The treatment of severe spondyloptosis in six children and of spondylolisthesis in 14 adults is considered separately, because of the somewhat different problems in the two different age groups.