At my last article I have discussed about one of the important ovarian factor, PCOS (Poly cystic Ovarian Syndrome),so today i am going to discuss about the investigations part and risk factors;
Investigations :-(1) Sonography:-Trans vaginal Sonography is specially useful in obese patient. Ovaries are enlarged in volume (>10cm3). Increased number (>12) of peripherally arranged cysts (2-9mm) are seen.
(2)Serum values- LH (Luteinizing Hormone) level is elevated and/or the ratio LH: FSH is > 2:1.
(3) Raised level of oestradiol & o estrogen- The oestrone level is markedly elevated.
(4) SHBG (Sex Hormone Binding Globulin)level is reduced.
(5) Hyperparathyroidism -mainly from the ovary, less from the adrenals.
(6)Raised serum testosterone & DHEA-S (dehydrogenate sulfate) may be marginally elevated. (7)Insulin Resistance (IR):- Raised fasting insulin levels.
(8)Laparoscopy:-Bilateral Poly cystic ovaries are characteristic of PCOS. Possible Rate Squealer of PCOS:- (1) Obese women(BMI>30) are at increased risk of developing diabetes Mellitus (15%) due to insulin resistance. (2) Risk of developing endometrial carcinoma due to persistently elevated level of oestrogens. Oestrogens effects are not opposed by progesterone because of chronic anovulatory state. (3)Risk of hypertension and cardiovascular disease as dyslipidaemia (lower level of HDL; high density lipoprotein, increase level of triglycerides & low density lipoprotein) is the most common metabolic abnormality in women with PCOS.
(4) Obstructive sleep apnoea. Premature Ovarian Insufficiency:-Premature ovarian insufficiency (failure)is defined when ovarian failure occurs before the age of forty. It occurs in about 1% of the female population. During intrauterine life either there is failure of germ cell migration or there may be normal germ cell migration but an accelerated rate of germ cell depletion (apoptosis)due to various reasons. This results in either no follicle or only few follicles left behind in the ovary by the time they reach puberty.
Causes of premature ovarian failure:-
(A)Genetic:- (1)Turner's syndrome(45XO), (45X/46XX) (2) Gonadal dysgenesis 46XX;46XY. (3) Trisomy 18 & 13 (4) X-chromosome deletion, translocation.
(B) Autoimmune:- (1) Auto antibodies:- anti nuclear antibodies(ANA), Lupus anticoagulant (2) Polyglandular autoimmune syndrome(antibodies against thyroid; parathyroid; adrenal; islet cells of pancreas).
(C)Infections:- Mumps, tuberculosis
(D)Iatrogenic:-Radiation therapy, chemotherapy, surgery.
(E)Metabolic:- Galactosaemia, 17alfa hydroxyls deficiency. In Galactosaemia, the enzyme gelatos -1-phosphate luridly transferees’ is absent. Follicles are destroyed by the toxic effects of galactose.
(F) Environmental:- Smoking
(G) FSH receptor absence or post receptor defect (Savage's syndrome).
(H) Idiopathic: Diagnosis/Investigations :- (1) History of amenorrhoea is less than 35years of age. (2) Serum gonadotrophin level (FSH >40mIU/ml) is high. (3) Cerotype abnormality (4) Organ specific humeral antibody (ant thyroid commonest) (5) Ovarian biopsy (a follicular; follicular and autoimmune variety) is not essential to the diagnosis. In autoimmune variety, there is per follicular lymphocyte infiltration. In resistant ovarian syndrome, follicles are present. FSH receptor is either absent or defective. (6) Patient presents with amenorrhoea -primary (25%) or secondary (75%). Features of hypo estrogenic state like hot flushes, vaginal dryness, dyspareunia and psychological symptoms are there. (B) Masculinising Ovarian Tumour:-There are features of gradual defeminisation followed by appearance of masculinising features such as hoarseness of voice, hirsute and enlargement of clitoris. Abdominal and pelvic examination reveal an adnexal tumour, the exact nature is confirmed by biopsy. Serum testosterone level is elevated to >2ng per ml while DHEAS level (dehydrate epiandrosterone sulphate) is normal. (C) Hypothalamic (Factors) Amenorrhoea:- Hypothalamic dysfunction is one of the major causes of true secondary amenorrhoea. There is often history suggestive of stress, exercise, rapid gain or loss of weight. (D) Weight Related Amenorrhoea:- Female athletes, runners, ballet dancers are under constant stress and performing strenuous exercise. They have high level of corticotrophin releasing hormone (CRH). The levels of ACTH (adrenocorticotropic hormone) cortical & endogenous opioids are high. Leptin levels are low. CRH (corticotrophin releasing hormone) directly inhibits GnRH secretion via raised endogenous opioids. They are more likely to develop amenorrhoea due to decrease in GnRH (Gonadotropin - releasing hormone)pulse frequency.
According to body weight hypothesis, body weight should be above critical level to achieve menarche and regular menstruation. To achieve menarche, body fat should reach 17% of the body weight. And for regularity of menstruation body fat should be maintained at least at 22%. Reduction of body fat by about one - third will result in menstrual abnormality. Menstruation becomes irregular when the BMI is < 19 kg/m2. These subjects are hypo oestrogenic & have got elevated prolactin & cortisol level. (E) Anorexia Nervosa:- It is a state of self-imposed starvation. This is a psychosexual problem where the patient suffers from the illusion of excessive body fat & distorted body image. Patient denies food & is markedly under-weight. Amenorrhoea is the rule. Constipation is common. Release of GnRH is affected. FSH and LH levels are low, cortisol level is high. This may be a life-threatening disorder.
(F) Obesity:-Obese women so often suffer from irregular menstrual bleeding. Excess number of fat cells in obese women, convert peripheral androgens to oestrogen(aromatisation). There is also low level of sex-hormone binding globulin, which helps free androgens to be converted to oestrone. Obesity with polycystic ovarian disease can cause oligomenorrhoea or amenorrhoea.
(G) Kallmann syndrome:- Embryologically GnRH neurons develop in the ectodermal olfactory placode before they migrate finally to the hypothalamus, GnRH(Gonadotropin releasing hormone)neurones are absent due to partial or complete agenesis of olfactory bulb (Olfactogenital dysplasia).This disorder is characterised by hypogonadotrophic hypogonadism, anosmia and colour blindness. There may be associated cleft lip and palate. Patients present with primary amenorrhoea. Mode of inheritance is due to a variety of genetic mutations in the KAL gene(X linked) or as an autosomal dominant or recessive fashion. Menstruation can be induced with combined oestrogen and progestin therapy.
(H)Pituitary factors:- Adenoma:-In adenoma either micro or macro, there is usually associated inappropriate lactation, secondary amenorrhoea & infertility. There may be headache with disturbed vision. (I) Hyperprolactinaemia and Amenorrhoea:-Prolactin inhibits GnRH pulse secretion. Gonadotrophin levels are suppressed.
Writer- Dr Priyanka Baisya.
Writer- Dr Priyanka Baisya.
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