We present a case of a woman with primary amenorrhea. Ultrasound imaging showed a uterus of normal size but bands of connective tissues at the site of ovaries. A genetic test was done which revealed the XY karyotype. Swyer syndrome was diagnosed. The patient did not report for the follow-up visits. Three years later, the woman reported back because of increasing abdominal circumference. The patient underwent an operation. Radical hysterectomy was performed. Histopathological examination showed dysgerminoma and gonadoblastoma on the left gonad and dysgerminoma on the right one. This case report presents the natural history of Swyer syndrome.

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Sulfonylureas (SUs) were proven to be more effective than insulin in most Kir6.2 permanent neonatal diabetes mellitus (PNDM) patients. We report SU use during pregnancy in PNDM. A woman with the R201H Kir6.2 mutation became pregnant at the age of 37. The patient had been on glipizide 30 mg for 3 yr; her glycosylated hemoglobin level was 5.8%. She was diagnosed with chronic diabetes complications and a congenital defect of the urogenitary tract-a bicornuate uterus with septum. Because the effect of SU on fetal development is uncertain, she was switched to insulin after the pregnancy diagnosis; however, the subsequent glycemic control was unsatisfactory, with episodes of hyper- and hypoglycemia. Thus, in the second trimester, the patient was transferred to SU (glibenclamide, 40 mg), which resulted in stabilization of glycemic control; glycosylated hemoglobin in the third trimester was 5.8%. Prenatal genetic testing excluded the Kir6.2 R201H mutation in the fetus. A preterm cesarean delivery was carried out in the 35th week. The Apgar score of the newborn boy (weight, 3010 g; 75th percentile) was 8 at 1 min. He presented with hypoglycemia, transient tachypnea of the newborn, and hyperbilirubinemia. The recovery was uneventful. No birth defects were recorded. His development at the ninth month of life was normal. In summary, we show a high-risk pregnancy in long-term PNDM that despite perinatal complications ended with the birth of a healthy child. SUs, which seem to constitute an alternative to insulin during pregnancy in Kir6.2-related PNDM, were used during the conception period and most of the second and third trimesters.

BackgroundDespite the strong preclinical rationale, there are only very few data considering the utility of metformin as a potential pain therapeutic in humans. The aim of this study was to determine the association between metformin therapy and pressure pain threshold (PPT) in lean women with polycystic ovary syndrome (PCOS). We hypothesized that metformin therapy in lean PCOS women increases PPT.Materials and methodsTwenty-seven lean PCOS women with free androgen index phenotype >5 and 18 lean healthy controls were enrolled in the study. Fifteen of the PCOS women were randomly assigned to be treated with metformin 1,500 mg daily for 6 months. PPT and plasma β-endorphin levels were measured in all women at the beginning of the study and after 6 months of observation.ResultsWe observed an increase in PPT values measured on deltoid and trapezius muscle in the PCOS with metformin group after 6 months of metformin administration (4.81±0.88 kg/cm2, P<0.001 on deltoid muscle, and 5.71±1.16 kg/cm2 on trapezius muscle). We did not observe any significant changes in PPT values in the PCOS without treatment group and in controls. We did not observe any significant changes in serum β-endorphin levels in any studied groups during the 6-month observation.ConclusionWe conclude that metformin therapy increases PPT in lean PCOS women, without affecting plasma β-endorphin concentration. Our results may suggest the potential role of metformin in pain therapy. We propose that larger, randomized studies on metformin impact on pain perception should be performed.