Symptoms and General Pathology

All Conditions

Nutritional and Metabolic Diseases

Urinary Tract, Sexual Organs, and Pregnancy Conditions

Neoplasms

Gland and Hormone Related Diseases

Syndrome

Obesity

Infertility

Infertility, Female

Polycystic Ovary Syndrome

Insulin Resistance

Primary Ovarian Insufficiency

Menopause, Premature

Premature Birth

Mitochondrial Diseases

Overweight

Overnutrition

Nutrition Disorders

Body Weight

Genital Diseases

Urogenital Diseases

Hyperinsulinism

Metabolic Diseases

Glucose Metabolism Disorders

Cysts

Ovarian Cysts

Ovarian Diseases

Adnexal Diseases

Genital Diseases, Female

Female Urogenital Diseases

Pregnancy Complications

Female Urogenital Diseases and Pregnancy Complications

Gonadal Disorders

Endocrine System Diseases

Menopause

Hypoglycemic Agents

All Drugs and Chemicals

Insulin

Insulin, Globin Zinc

Vera Várhegyi, MD

Anikó Gál, PhD

Enrolling of 150 female patients of fertile age diagnosed with PCOS, insulin resistance, infertility, or mitochondrial disease, and the same number of age- and sex-matched controls are planned.

During the research biomarkers already with mitochondrial dysfunction in the scientific literature and common mtDNA abnormalities (deletions, point mutations, copy number changes, etc.) are examined.

Mitochondrial dysfunction can be involved in the development of clinically heterogeneous diseases affecting multiple tissues and organs and can manifest at any age. Clinical signs are mainly manifested in the most energy-demanding tissues, such as the central nervous system, striated muscles, cardiac musculature, endocrine glands, liver, kidney, and sensory organs.

Polycystic ovarian syndrome (PCOS) is a multifactorial disorder with endocrine dysfunction characterized by ovulatory dysfunction, obesity, insulin resistance (IR), hirsutism, mild persistent inflammation, and ultrasonographically confirmed polycystic ovarian morphology. PCOS affects 5-15% of women of reproductive age. PCOS and IR are also common and treatable causes of infertility. As a result of delaying childbearing until later in life, this problem is affecting more and more couples. In the present study, the investigators hypothesize that PCOS, IR, and infertility associated with these conditions may also be a manifestation of mitochondrial dysfunction, the role of mitochondrial dysfunction in these conditions has been investigated to a limited extent based on the current literature.

Recent literature has shown that mitochondrial dynamics and morphology are two of the major factors in the development of insulin resistance and diabetes mellitus by regulating glucose metabolism. The investigators of this study cohort hypothesize that PCOS and IR may also be a manifestation of a primary mitochondrial pathology, the prevalence of IR and PCOS in primary mitochondrial patients has not yet been investigated based on the current literature. Recent literature suggests that mitochondrial dynamics and morphology are two of the main factors in the development of insulin resistance and diabetes mellitus by regulating glucose metabolism.

In the present experimental design, mitochondrial dynamics, bioenergetics, and autophagy pathways are hypothesized to play a key role in the pathomechanisms of PCOS and IR. A better understanding of the role of mitochondrial pathways in the pathophysiology of PCOS and IR may help to develop new biomarkers or therapeutic targets.

DNA isolated from blood sample and urine sample (urine epithelial cells)

Polycystic Ovary Syndrome, Mitochondrial Dysfunction, Obesity, Insulin Resistance Infertility (POMODORI) Cohort

Polycystic Ovary Syndrome, Insulin Resistance, Infertility, Obesity, and the Associated Mitochondrial Dysfunction With These Disorders in Hungarian Patients

The body mass index (BMI) is the metric currently in use for defining anthropometric height/weight characteristics in adults and classifying (categorizing) them into groups (expressed in kg/m2).

Daily dose of metformin used (expressed in milligrams)

Daily or weekly dose of the used glucagon-like peptide-1 (GLP-1) agonist depending on the exact type of active substance (expressed in milligrams)

The serum glucose and insulin levels are calculated by using plasma concentrations of insulin and glucose obtained during 120 min of a standard (75 g glucose) OGTT. Fasting, 1h and 2h glucose and insulin levels are measured

Clinical pregnancy rate = the number of clinical pregnancies/the total number of participants in the patient cohort × 100%

Measurement of the baseline female sex hormone: anti-Mullerian hormone (AMH), luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradiol, progesterone, total testosterone, free testosterone, SHBG) and thyroid hormone levels (thyroid stimulating hormone (TSH), T3, T4 + anti-thyroid peroxidase antibody, anti-thyroglobulin antibody) - in the unit of measurement used for the hormone concerned

Semmelweis University

University professor

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization	Link
Polycystic Ovary Syndrome, Mitochondrial Dysfunction, Obesity, Insulin Resistance Infertility (POMODORI) Cohort	NCT06167135	Infertility, Fe... Polycystic Ovar... Insulin Resista... Primary Ovarian... Mitochondrial A... Obesity		20 Years - 45 Years	Semmelweis University
Polycystic Ovary Syndrome, Mitochondrial Dysfunction, Obesity, Insulin Resistance Infertility (POMODORI) Cohort	NCT06167135	Infertility, Fe... Polycystic Ovar... Insulin Resista... Primary Ovarian... Mitochondrial A... Obesity		20 Years - 45 Years	Semmelweis University

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