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
Hirsutism Treatment
Cyproterone acetate is an anti androgen that stops progression and decrease hair growth
Oestrogens increase hepatic production of SHBG
Cosmetic therapy
Primary amenorrhoea - history and examination
Development of sex characteristics Menopausal sx sexual activity galatorrhoea Drug hx Medical surgical Hx - Chronic disease, chemo radiation FHx - sisters and mums menarche / menopause social - stress, diet, exercise
Examination BMI Tanner stage, hirsutism, balding, cushing signs, clitoromegaly - CAH visual fields in ? pituitary cause genital and vaginal exam
McCune - Albright syndrome
What is the presentation
What is the defect
Precocious puberty 6-7 year old
Defect in G3 alpha subunit protein (causing it to be always active) - this is part of the signally pathway
Chimeric - several and various tissues affected
Gonadotrophin independent process
Associated Hyperthyroid hyperparathyroidism
Cafe au lait - coast of maine border
Treat with aromatase inhibitors - limit oestrogen affect
Turners syndrome
What is the presentation
What is the defect
Delayed puberty + Primary amenorrhoea
45 X0 Ovarian failure - streak gonads
Short, shield chest webbed neck, prepubertal vagina uterus and cx
high FSH high LH no oestradiol
Renal autoimmune cardiac (Aortic coarctation Mitral valvue Prolapse bicuspid valve)
Growth Hormone, Hormone replacement and egg donation
Kleinfelter syndrome
Testicular atrophy - dysfunction of leydig cells and seminiferous tubules.
tall, gynaecomastia, female hair distribution, long extremities, developmental delay
High LH and FSH, low testosterone, increased oestrogen + inhibin B
47XXY
androgen insensitivity
‘testicular feminisation’
Inactivating receptor in androgen receptor in end organs
46XY - female phenotype until puberty -
Primary anemorrhoea
Short vagina, no Cx no Uterus
testicles (produce anti mullerian hormone)
Internal genitalia male
high LH : FSH (can be normal limits)
High testosterone normal oestrogen
HRT, remove testicle (cancer risk) in labia major, expand vagina for sexual function
5 alpha reductase deficiency
the enzyme that converts Testosterone to dihydrotestosterone
46XY
Internal genitalia is male - ambiguous external genitalia until puberty when increase in testosterone and external genitalia responds,
sudden ‘penis at 12’ syndrome
high testosterone
Kallman syndrome
Impaired migration of neurons
Anosmin 1 deficiency causing impaired migration of neurons GnRH dont migrate so low GnRH
Olfactory bulbs don’t migrate - anosmia
Hypogonadotrophic Hypogonadism
delayed puberty, anosmia, amenorrhoea, low sperm count.
all hormones low as GnRH low
Tx GnRH
Signs of adenomyosis on USS
Myometrial cysts
Asymmetrical thickening of the myometrium – more on posterior aspect
Linear striations radiating out from the endometrium
Loss of clear endomyometrial border
Increased myometrial heterogenicity
