menstural cycle and problems with it Flashcards
What is turners syndrome
How does it present
What are the characteristic features
45X. 1-2-5000
Present without development of female sexual characteristics / primary amenorrhoea
a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature
Most people with TS have normal intelligence. Vision and hearing problems occur more often.
15% of all spontaneous abortions have the 45,X karyotype
Causes of primary amenorrhoea
Anatomical :
Mullerian agenesis - no uterus/ vagina
Abnormal tract - imperforate hymen/ septum
Turners - gonadal dysgenesis
HPO axis - GnRH deficiency. functional (diet exercise)
hypopituitary, prolactinoma, ovarian failure (chemo radiation turners)
hypothyroid Physiological delay - constitutional PCOS complete androgen insufficency congential adrenal hyperplasia Drugs
How do we diagnose PCOS
The Rotterdam criteria require two of the three following for the diagnosis of PCOS:
Polycystic ovaries (either 12 or more peripheral antral follicles or increased ovarian volume).
Oligomenorrhea or anovulation.
Clinical and/or biochemical signs of hyperandrogenism (hirsutism, acne, male pattern baldness)
However, all diagnostic approaches
require that secondary causes (adult onset congenital adrenal hyperplasia, hyperprolactinaemia, and androgen secreting neoplasms) should first be excluded.
What are the metabolic consequences of PCOS?
impaired glucose tolerance (IGT), Type 2 Diabetes (T2D) and metabolic syndrome. GDM
Who and how should woman with PCOS be screened for diabetes
Fasting glucose levels are poor predictors of glucose intolerance risk in women with PCOS and
therefore screening for IGT should be by a 2-hour oral glucose tolerance test (OGTT).
Variable as to who should be tested
Either all with OGTT vs higher risk (fasting blood sugar of 5.6mmol/l+ BMI over 30kg/m2 FHx or lean PCOS women of advanced age (>40years)
Repeat screening maybe appropriate
what is the association between cardiovascular disease and PCOS
45%!
Women with PCOS should be screened for cardiovascular risk by determination of BMI, fasting lipid and lipoprotein levels and metabolic syndrome risk factors.
No increase in cardiovascular events
Smoking cessation is important
What is metabolic syndrome
Elevated blood pressure (greater than or equal to 130/85)
Increased waist circumference (greater than or equal to 88cm)
Elevated fasting blood glucose levels
Reduced high density lipoprotein cholesterol levels
Elevated triglyceride levels
What are other risks associated with PCOS?
other then cardiovascular and diabetes
higher risk of depression, anxiety and worsened
quality of life in this condition.
OSA
How can PCOS be treated?
Lifestyle modification
Women with PCOS who are not obese, should be strongly advised to maintain their
BMI in the normal range. Modest weight reduction (5-10%) is associated with a significant
improvement in metabolic indices.
Drug therapy
Insulin sensitising agents such as metformin have a role when IGT or T2D has been diagnosed.
However, there is no current evidence indicating that these drugs lower cardiovascular risk,
and their routine use in PCOS is not recommended.
Endometrial protection
OCP, Mirena, progesterone to stimulate a withdrawal bleed
Treat diabetes, OSA, obesity
Ovulation stimulation with BMI over 35 contraindicated
What is the PCOS infertility treatment
Ovulation induction -
Randomised trials suggest that clomiphene is the first line treatment and more effective than
metformin alone for ovulation induction in PCOS.
However, pregnancy when obese is associated with many increased risks therefore it is inappropriate to recommend ovarian stimulation as part of first line therapy in the female with a BMI >35 unless there are exceptional circumstances
Surgical management ovarian diathermy or ovarian drilling - in clomiphene insensitive cases
PCOS pathophysiology
Autosomal dominant inheritance - specific gene not identified
Raised levels ovarian androgens - resulting in multiple follicle formation
Mechanism:
Extraovarian androgens
High LH stimulate the thecal cells in the ovary to produce more androgen
Low sex hormone binding globulin - increasing level of active hormone in the body
SHBG levels are inversely proportional to BMI
High insulin levels - activity of LH is augmented stimulating thecal cells
Ddx for PCOS
PCOS is a dx of exclusion
Extraovarian androgen secretion - cushings, Congential andrenal hyperplasia, exogenous steroids, androgen secreting adrenal tumors
PCOS presentation
Hirsutism, acne, male pattern baldness, infertility obesity / metabolic dysfunction Menstrual disturbance Asymptomatic / FHx
PCOS Exam findings
BMI - fat distribution
Hirsutism assessed with the ferriman Gallwey system
Abdo / gynae exam to exclude other ddx
PCOS Ix
hcg
Hormones in 1st week of cycle
FSH and oestradiol - to exclude hypo hypo and primary ovarian failure
Prolactin levels (PCOS can give you raised prolactin)
Morning 17- hydroxyprogesterone to exclude CAH
Free testosterone, free androgen index and SHBG (classically high free testosterone and low SHBG are seen)
High LH:FSH ratio
USS - PCO 12+ follicles in each ovary, measuring 2-9mm or ovarian volume more then 10mls
Complications of PCOS
Endometrial ca, GTT, HbA1c, TG Cholesterol, Screen OSA, mood sx
