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Name types of intersex states

CAH, AIS, 5 alpha Reductase


Which intersex state may present later in life?

AIS - presents with amenorhoea


What is CAH?

Autosomal recessive.
Usually 21 hydroxylase deficiency
Reduction in cortisol and aldosterone
ACTH increases bu shunting into androgen synthesis pathway


What are the symptoms of CAH?

Salt wasting
Addisonian crisis in infants
Precocious puberty in males
Virilisation of genitalia in female - ambigous


What are the investigations of CAH?

imaging - pelvic/renal/bladder


What is the management of CAH?

gender reassignment and replacement of cortisol and aldosterone


What is AIS?

High resistance to testosterone causing genetically male children to have a female phenotype


What are the symptoms of AIS?

Complete AIS → appear female at birth. Usually present with amenorrhoea, and will have a lack of body hair. The patient will have undescended testes and an absent uterus. Breast development may occur as a result of testosterone conversion to oestradiol.

Partial AIS → present with a varying degree of genital development. This can range from cliteromegaly to ambiguous genitalia


How is AIS diagnosed?

Buccal smear or chromosome analysis to reveal 46XY genotype


What is the management of AIS?

Counselling - raise child as female

Bilateral orchidectomy (increased risk of testicular cancer due to undescended testes)

Oestrogen therapy


What is 5 alpha reductase?

Autosomal recessive condition. Results in the inability of males to convert testosterone to dihydrotestosterone (DHT). (More potent, responsible for external genitalia differentiation)


Define sex determination

Sexual determination is a genetically controlled process dependent of the Y chromosome, i.e. it is the genetic determination of male or female. The key gene is the SRY (sex determining region Y), which determines whether a testis or ovary will form. The formation of a testis then regulates sexual differentiation.


Describe the process of sexual differentiation

Male - SRY - Sertoli cells develop - produce AMH mullerian duct degenerate.
Leydig cells - testosterone - wollfian duct - epididymis, vas deferens, seminal vesicle, ejaculatory duct .
DHT - external structures

Female - no SRY. Ovary develops. No sertoli cells so no MIS causing mullein duct development and Fallopian tubes, uterus, upper vagina.
no leydig cells - regression of wollffian ducts.


What is adrenarche and menarche?

Adrenarche - secretion of adrenal androgens leading to growth of hair, height.

Menarche - onset of menstruation.


Define delayed and precocious puberty

Precocious : The onset of secondary sexual characteristics before age of 8 in girls or 9 in boys

Delayed: Defined as the lack of any pubertal signs by the age of 13 years in girls and 14 years in boys.


What are causes of delayed puberty?

1Constitutional delay: idiopathic/ within families. Temporary delay due to severe illness in childhood, e.g. mumps.

2. Organic causes:
Hypothalamic [Hypogonadotrophic hypogonadism – low levels of LH/FSH and low levels of sex steroids]:
Congenital GnRh deficiency (e.g. Kallmann’s syndrome – where there is failure in migration of GnRH neurons) or acquired (trauma, surgery)

Gonadal [Hypergonadotrophic hypogonadism– high levels of LH/FSH and low levels of sex steroids]:
Congenital disorders, chromosomal disorders (e.g. Klinefelters) or acquired (e.g. testicular/ovarian torsion, radiation, surgery, infection)


What are causes of precocious puberty?

1. Gonadotrophin dependent ('central', 'true') → consonance maintained
• Caused by excess GnRH secretion: either idiopathic (common in females) or secondary (trauma, radiotherapy, intracranial tumour or CNS damage)
• FSH & LH raised

2. Gonadotrophin independent ('pseudo', 'false') → loss of consonance
• Due to excess sex hormones
• FSH & LH low due to negative feedback
• Caused by:
o Ovarian: tumours
o Testicular: tumours, activating LH mutations on Leydig cells which release testosterone
o Adrenal: CAH in males
o Primary hypothyroidism: high levels of TSH acts on LH/FSH receptors causing a release of sex steroids
o McCune-Albright syndrome: Sx - precocious puberty, café au lait spots, fibrous dysplasia of the bones & short stature
o Exposure to exogenous steroids


Describe the events of puberty and when they occur



What are the stages of the menstrual cycle?

Follicular phase → growth of follicles up to ovulation, dominated by oestrogen (variable length)

Luteal phase → formation of corpus luteum, dominated by progesterone production (always lasts 14d)


Outline the hormonal changes in the menstrual cycle?

1. Follicular phase:
Early in the follicular phase steroids low due to the regression of CL
FHS released from -ve feedback leading to the intercycle rise in FSH → follicle selection

• Dominant follicle is selected and produces oestrogen which gives –ve feedback causing FSH levels to fall

2. Mid-cycle:
• Dominant follicle continues producing oestrogen till levels exceed 300pmol where negative feedback switches to positive
• This causes an LH surge (and FSH peak)
• LH induces ovulation

3. Luteal:
• Corpus luteum produces progesterone and negative feedback is re-instated
• Withdrawal of progesterone leads to menses


How does 5 alpha reductase present?

Internal male structure are formed, external are not

May appear female or have ambiguous genitalia

Can undergo virilisation at puberty (high levels of circulating testosterone)


What are the causes of oligo/amenorrhoea?

Primary: structural or genetic

Premature menopause, PCOS, hyperprolactinaemia
Physiological: pregnancy, lactating, pre or post.

Primary - congenital reduced GNRH. Secondary - stress, low fat/body weight, exercise

Hyperprolactinaemia, Sheehans

Acquired: PCOS or premature menopause
Congenital: turners
Endocrine; thyroid


How does 5 alpha reductase present?

Internal male structure are formed, external are not

May appear female or have ambiguous genitalia

Can undergo virilisation at puberty (high levels of circulating testosterone)


What are the first sign of puberty in girls?

First sign is breast development at around 11.5 years of age (range = 9-13 years)
Height spurt reaches its maximum early in puberty (at 12) before menarche
Menarche at 13 (11-15)
There is an increase of only about 4% of height following menarche


What are the investigations and management for precocious puberty?

Auxology: accurate measurements of height, body proportions + weight
Tanner stage + Ferriman and Gallwey scoring system for hirsutism
•Bone age estimation, LH, FSH, Sex steroids, US scan of pelvis, MRI of hypothalamic areas
•Measuring adrenal steroids: increased in tumours + in CAH, the precursors of androgens

Treatment: dampens down the effects of the sex steroids
5-alpha reductase inhibitors
Aromatase inhibitor – inhibits conversion of testosterone to oestrogen
Long acting GnRH analogues – dampens down the pituitary so there is no release of LH/FSH


What investigations and management would be needed for delayed puberty?

Same Ix as precocious. + Check anosmia for kallmans.

Oxandralone (synthetic steroid)
Kallman’s can be treated using pulsatile GnRH as the gonads are still functioning


What is the Tanner staging system?

5 stages of development for breasts, pubic/axillary hair and male genitalia


Define menopause

Menopause is the permanent cessation of menstruation due to loss of ovarian follicular function. Average age 51.

12 months after the last period in women > 50 years

24 months after the last period in women < 50 years


When is menopause classified as premature?



What are the symptoms of menopause?

Change in periods
Vasomotor symptoms
• Hot flushes
• Night sweats

• Anxiety/ depression
• Short-term memory impairment

Urogenital changes
• Vaginal dryness and atrophy
• Urinary frequency

Longer term complications
•OP+Heart disease