I= CLINICAL AND GENETIC STUDIES OF POLYCYSTIC OVARIAN SYNDROME
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Title of Thesis
CLINICAL AND GENETIC STUDIES OF POLYCYSTIC OVARIAN SYNDROME

Author(s)
FOUZIA NAZIR
Institute/University/Department Details
Faculty of Biological Sciences/ Quaid-i-Azam University, Islamabad
Session
2008
Subject
Number of Pages
139
Keywords (Extracted from title, table of contents and abstract of thesis)
polycystic ovarian syndrome, endocrine disorder, menstrual cycle problems, hirsutism

Abstract
Polycystic Oavarian syndrome (PCOS) is the most common endocrine disorder of reproductive age group and its familial presence has been proved. The present study was carried out in two parts. First part comprises clinical, sonographic, endocrine, biochemical characteristics and second part includes epidemiological aspect and association of known loci with micro satellite markers of PCOS. At the end, relationship among clinical, endocrine and association of microsatellite markers With PCOS loci was done. This study was carried out in 6 Pakistani families for which data were obtained through interview of the subjects from Gynecology advisory Centre, Islamabad. PCOS and non-PCOS women were diagnosed applying diagnostic criteria for PCOS of Rotterdam 2003 consensus. This study was carried out from Nov 2001 to December 2005. Main clinical features recorded for PCOS and non-PCOS women were menstrual problems, obesity, sub-fertility and hirsutism. It was found that 38.24% of PCOS women were obese (EMI 30-35 Kg/m2 ) in these families. Menstrual cycle problems (secondary amenorrhea and oligomenorrhea) of PCOS women were seen in 32.40 % and 52.90 % respectively. Sub-fertility was found in 50 % of PCOS women. Moderate and severe hirsutism in PCOS women was present in 47 % and 5.8 % respectively. Acanthosis nigrans was present in 52.9 % of PCOS women. Sonographic findings like follicular number with small diameter (2-8 mm), stromal thickness in mm, ovarian volume were significantly more in PCOS women than in non-PCOS women. Mean serum LH levels in pre-menopausal PCOS women were significantly more compared to non-PCOS pre-menopausal women. Raised serum LH: FSH ratio in PCOS women was seen in 32.4 % which was significantly high compared to non-PCOS women. Serum fasting insulin levels were more than 10 uIU/1 in both PCOS and non-PCOS women which was a manifestation of hyperinsulinemia. Triglyceride levels and fasting blood sugar levels in non-PCOS were more compare to PCOS women. Diabetes mellitus type 2 was present in 17.8 % of PCOS and non-PCOS women.

In the second part of the study, recessive mode of inheritance was ascertained in all of the six families. Association of steroid marker D15S519 was seen in family 5. Likewise, marker D5S822 was strongly linked to family 2. Weak association with insulin markers were found in family 1 and 6. Relationship of clinical features and endocrine parameters with known loci was also an interesting feature of the study. In family 5, mean serum testosterone levels were maximum and association with steroid marker D15S519 was seen here. In family 2, mean serum LH levels were highest and association with marker for follistatin gene D5S822 was found.

In conclusion, we predict from this study that as there are more clinical manifestations in PCOS women of these families but due to its genetic etiology, endocrine and metabolic problems are more or less equalent in these families. So, early prevention by life style modification is the most understood method to save from long term complications.

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S. No. Chapter Title of the Chapters Page Size (KB)
1 0 Contents
116.67 KB
2 1 Introduction 1
785.72 KB
  1.1 Subject And Methods 17
  1.2 Results 33
  1.3 Discussion 63
3 2 Introduction 69
473.82 KB
  2.1 Subject And Methods 78
  2.2 Results 83
  2.3 Discussion 113