Timely Identification of Pregnancy in Noncommunicating Horn of Unicornuate Uterus by Three-Dimensional Transvaginal Ultrasonography.

Pregnancy in the rudimentary horn of a unicornuate uterus is uncommon and needs to be diagnosed at early stages to avoid uterine rupture to avert the high morbidity and mortality. In this case report, we discussed the advantage of three-dimensional transvaginal ultrasonography (3D TV-USG) in assessing the early pregnancy in the noncommunicating rudimentary horn of uterus. A 23-year-old woman approached us for routine pregnancy scan. The location of 5-week pregnancy was confirmed in the right noncommunicating horn of a unicornuate uterus by 3D TV-USG. She has undergone laparohysteroscopy, and excision of a gravid rudimentary horn was done. After an interval of 6 months, the patient received fertility treatment and conceived consequently. Although magnetic resonance imaging (MRI) is an excellent way of diagnosing uterine anomalies, the procedure is expensive, time-consuming, and not widely available. 3D USG is less expensive and more readily accessible for early diagnosis of uterine anomalies, particularly in health-care centers where MRI is not readily available or affordable.

Mutational analysis of the FIGLA gene in women with idiopathic premature ovarian failure.

OBJECTIVE: The aim of our study was to identify the association of FIGLA (factor in the germ line α) gene variants with premature ovarian failure (POF) in the Indian population. METHODS: Two hundred nineteen women with idiopathic POF and 230 healthy controls were recruited for this study. All exons, intron-exon boundaries, and untranslated regions of the FIGLA gene were analyzed by polymerase chain reaction and sequencing. All FIGLA variants were analyzed in silico, using PolyPhen, SIFT, MutationTaster, PMUT, I-Mutant, Mupro, Align-GVGD, PROVEAN, and HOPE software, to predict pathogenicity and changes in protein stability. RESULTS: Seven different FIGLA variants were detected among women with POF. Two exon 3 variants, c.427G → C and c.557C → T, showed strong association between cases and controls (P = 0.02 and P = 0.02, respectively). Significant differences in both of these variants were observed between cases and controls in genotype and dominant models. No significant difference between controls and women with POF was found on haplotype analysis. A nonsynonymous variant, p.(Arg83Cys), was found only in POF cases. Variant p.(Arg83Cys) lies in the functional domain of the FIGLA gene (basic helix-loop-helix), and protein alignments reveal that it is highly conserved among mammals. In silico analysis suggests the functional involvement of p.(Arg83Cys) and p.(Ser141Thr) variants in POF pathogenesis. CONCLUSIONS: We have established a strong association between FIGLA gene variants and POF in Indian women, which may be a potential genetic risk factor in the development of idiopathic POF. However, further independent genetic and functional studies are necessary to confirm our findings.

Cut-Off Levels of Anti-Mullerian Hormone for The Prediction of Ovarian Response, In Vitro Fertilization Outcome and Ovarian Hyperstimulation Syndrome.

BACKGROUND: Evaluation of anti-mullerian hormone (AMH) cut-off levels in as- sisted reproductive technology (ART) as predictive factor for individualization of stimulation protocols and to avoid ovarian hyperstimulation syndrome (OHSS). MATERIALS AND METHODS: In a retrospective study, 177 infertile patients were as- sessed for AMH in serum and follicular fluid (FF) on the day of follicular puncture (FP), between 2012 and 2013 in Kiel, Germany. AMH levels and pregnancy rates were compared between low, moderate and high responders and cut-off levels of low and high responders. AMH cut-off levels in pathological cases were evaluated in analysis 1 (OHSS) and in analysis 2 [polycystic ovarian syndrome, (PCOS)] and compared in analysis 3 to normal endocrinological parameters. RESULTS: AMH levels in FF were higher than in serum (P<0.001). AMH levels in serum and FF increased from low through moderate to high responders (P<0.001). Pregnancy rates were 14.7, 23.3 and 44.9% (P=0.009), respectively. AMH cut-off level for poor responders was 0.61 ng/ml in serum with a pregnancy rate of 13.8 and 37.1% for below and above of this level, respectively. For FF, it was 1.43 ng/ml. AMH levels in analysis 1 and 2 were significantly higher than in analysis 3 (P=0.001). AMH cut-off level for OHSS was 1.5 ng/ml in serum with OHSS rates of 80.8 and 19.2 % for above and below of the level, respectively. For FF, it was 2.7 ng/ml. PCOS patients had an AMH cut-off level of 3.9 ng/ml in serum and 6.8 ng/ml in FF, resulting in a PCOS rate of 100% above this level. CONCLUSION: AMH levels can help to assess ovarian response potential and guide ovarian stimulation while avoiding OHSS.