Male Infertility: Causes and Management at a Tertiary Care Center in India.

Background Infertility and problems of impaired fecundity have been a concern through the ages and are also considerable clinical problems today, affecting many couples worldwide. Most infertility cases are primarily attributed to male factors, which play a significant role. Additionally, a substantial number of these patients exhibit suboptimal sperm parameters.

A Rare Case of Mosaic Ring Turner Syndrome with Horseshoe Kidney.

Rearranged X chromosomes in Turner syndrome (TS) generally present with a mild phenotype, but in cases of ring X chromosomes, the incidence of intellectual disability and other congenital abnormalities can be significantly higher depending on the size of the ring and the involvement of X-inactive specific transcript (XIST) region. Here, we report a 17-year-old female who was referred for a cytogenetic analysis because of primary amenorrhoea. The patient, of normal intelligence, had been found to have traits of TS, especially short stature and some rare findings such as horseshoe kidney and short fourth toe.

Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome.

We present a patient with nonclassic congenital adrenal hyperplasia (NCAH) misdiagnosed as mosaic Turner syndrome. She presented with complaints of primary infertility. Short stature, the presence of facial hair and hoarse voice was also noted.

Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study.

Background: Recurrent pregnancy loss is a common occurrence and a matter of concern for couples planning the pregnancy. Chromosomal abnormalities, mainly balanced rearrangements, are common in couples with repeated miscarriages.

Purpose: The purpose of this study is to evaluate the contribution of chromosomal anomalies causing repeated spontaneous miscarriages and provide detailed characterization of a few structurally altered chromosomes.

Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter.

Exact breakpoint determination by oligonucleotide array-CGH has improved the analysis of genotype-phenotype correlations in cases with chromosome aberrations allowing a more accurate definition of relevant genes, particularly their isolated or combined impact on the phenotype in an unbalanced state. Chromosomal imbalances have been identified as one of the major causes of mental retardation and/or malformation syndromes and they are observed in ~2-5% of the cases. Here we report a female child born to non-consanguineous parents and having multiple congenital anomalies such as atrial septal defect and multiple ventricular septal defects, convergent strabismus, micropthalmia, seizures and mental retardation, with her head circumference and stature normal for her age.