Paed and adolescent gynaecologist Flashcards

Question

Idiopathic hypogonadotropic hypogonadism | causing primary amenorrhoea

Answer 1

Genetic disorders that affect the production and/or action of GnRH, resulting in reduced serum levels of sex steroids Have normal ovaries In females, onset of adrenarche with absent of thelarche and menarche - Pubertal induction for breast development and uterine growth with oestradiol - Maintenance of normal menstrual cycle and bone health with COCP - Pregnancy can be achieved in patients who have received and responded to treatment

Answer 2

Reduced fat cells --> no leptin --> informing the hypothalamus that not well fed enough to reproduce --> reduced FSH/LH --> low oestradiol In order to normalised pubertal development and optimise growth, calorie intake and energy expenditure should be adjusted Estrogen therapy and current bone age assessment may be considered Optimise vitamin D and calcium

Answer 3

``` H: - Home (Family) - Housing E: - Education - Employment - Eating - Exercise A: - Activities (Friends) D: - Drugs - Depression S: - Sexuality Suicide ```

Answer 4

Patients with genital appearance that is atypical or discordant with chromosomal sex Use terms: 'typical male' and 'typical female'

Answer 5

1 in 4500 live births XX KARYOTYPE Congenital adrenal hyperplasia - Most common cause of ambiguous genitalia Exposure in utero to maternal androgens Placental aromatase deficiency - Leads to increased fetal androgen production --> virilisation of both mother and fetus ``` XY KARYOTYPE Partial gonadal dysgenesis Partial AIS Defect in testosterone biosynthesis 5 alpha reductase deficiency - Enzyme deficiency - usually converts testosterone to DHT (potent androgen required for fetal genital virilisation) ```

Answer 6

History of maternal drug use - E.g. progesterones can cause virilisation, cyproterone which causes under-masculisation Virilisation in the mother during pregnancy - E.g. poorly controlled CAH - Placental aromatase deficiency leads to increased fetal adrenal androgens which in turn cross the placenta virilising both mother and fetus Family history of CAH and X linked disorders History of consanguinity

Answer 7

Karyotype 46 XY X-linked recessive condition Defect in androgen receptor gene - Androgen receptors in the body cannot respond to testosterone and dihydrotestosterone Gonads = testes (regardless of complete, partial or mild) - Produce testosterone - Produce AMH

Answer 8

1 in 20,000 Phenotypically female with normal breast development but sparse pubic hair - At puberty, testosterone converts peripherally to oestrogen so secondary characteristics start to develop Primary amenorrhoea as no uterus After puberty: - Serum testosterone concentrations are high-normal to slightly elevated for typical post-pubertal boys - Estradiol levels are in the upper typical male reference range Vaginal development is variable but vaginal hypoplasia is common

Answer 9

External genitalia of a typical male but maybe underdeveloped At puberty: - Gynaecomastia and virilisation Slightly diminished secondary sexual hair Spermatogenesis mostly severely impaired No gonadectomy, but surveillance recommended

Answer 10

External genitalia are partially but not fully masculinised = ambiguous

Answer 11

Psychological support Sex assignment - if partial AIS and presenting with ambiguous genitalia Hormone replacement or supplementation - For CAIS and PAIS who are phenotypic females - If pubertal age - low doses of oestrogen should be begun to promote feminisation - Adult women - give full estrogen replacement immediately Vaginal dilators in CAIS - high success rates 90% Genetic counselling - 1/3 - 1/6 that siblings carrying gene mutation Risk of gonadal malignancy (CAIS) - Small risk during childhood ~5% - Increases during adulthood (~14%), therefore recommend gonadectomy in early adulthood (16-25y) Infertility - will need donor oocyte and surrogate

Answer 12

Autosomal recessive disorders 21-hydroxylase deficiency in an XX individual - ~90-95% of CAH - Lack of enzyme --> decrease in the level of cortisol --> increase ACTH secretion --> increase in the levels of cortisol precursors which are forced along the androgen pathway - "Salt wasting" - severe form (occurs in 75% with classic 21 OHD). Aldosterone levels will also be low --> salt wasting, volume depletion, hypotension, reduced renal blood flow and raised renin activity ``` Classic CAH - 0-2% enzyme activity Nonclassic CAH (more common) - 20-50% 21-hydroxylase enzyme activity ```

Answer 13

Serum 17-OH progesterone - high Low aldosterone, low cortisol, high androgens Urea and electrolytes - abnormal in salt losing CAH - Hyponatraemia, hyperkalaemia

Answer 14

Normal newborn care Care for parents Expect and manage adrenal crisis Expect and manage electrolyte imbalance if CAH Genital surgery - controversial, timing difficult replace aldosterone with fludrocortisone Replaced glucocorticoid to suppress ACTH overactivity

Answer 15

46XX or 46XY phenotypic females who have streak gonads and normal Mullerian structures Genetics: - May occur sporadically - May be inherited as an Autosomal recessive trait or X-linked trait in XY gonadal dysgenesis

Answer 16

Typically female, often present with primary amenorrhoea, may have some breast / hair develop (from circulating androgens from the adrenals) Average height Underdeveloped uterus and cervix, streak / absent ovaries Elevated FSH and no oestrogen as streak gonads produce neither steroid hormones nor inhibin Management - through specialist - As for primary ovarian failure - Pubertal induction

Answer 17

46 XY Disorder at the start of the sex differentiation pathway Aetiology thought to be: - Altered SRY function due to a mutation on chromosome Y, or - A gene on X chromosome that is necessary for SRY function Failure of testes to develop so no testosterone or AMH produced

Answer 18

Typical female external genitalia appearance No breast development Intact Mullerian structures - uterus and fallopian tubes are present Streak gonads Tall stature ``` Investigations - Raised FSH - Low E2 and progesterone - Normal female androgens USS - uterus, fallopian tubes ```

Answer 19

Need gonadal removal to avoid germ cell tumours (30%) - Often present at puberty with gonadoblastoma Usually proceed with pubertal induction and continue HRT to remain phenotypically female Bone density monitoring Psychological support Pregnancy possible with donor oocytes

Answer 20

Primordial germ cells migrate from the gonad ridge to ~T10 level No SRY gene --> gonads differentiate into an ovary (around week 7) Germ cells differentiate into oogonia and enter the first meiotic division as primary oocytes, at which point development is arrested until puberty Oocytes: - 5 million at 20/40 - 1-2 million at birth - 180,000 at puberty

Answer 21

No SRY gene, therefore no AMH is produced and the Mullerian ducts continue to develop and the Wolffian ducts regress Mullerian (paramesonephric) ducts develop into the fallopian tubes, uterus, cervix and upper 1/3 vagina - starts at 6 weeks At 8/40 - fusion of the 2 ducts to form uterus, cervix and upper vagina occurs - tubes remain unfused Upper vagina fused with the urogenital sinus at 12/40 Canalisation from 12/40, complete resorption by 5/12

Answer 22

Early in the 5th week, folds of tissue form on each side of the cloaca and meet anteriorly in the midline to form the genital tubercle Cloaca forms from primitive hindgut, then becomes the urogenital sinus Cloaca divided by the urorectal septum --> urogenital folds and anal folds Genital tubercle --> clitoris Urogenital folds (anterior cloaca) --> labia minora Labial scrotal swellings --> labia majora

Answer 23

May be associated with renal anomalies (e.g. unilateral agenesis, horseshoe kidney, pelvic kidney) in up to 40% - Renal USS as well as part of work up Spinal anomalies in up to 10-20%

Answer 24

IUGR - reduced intrauterine space - Related to abnormal uterine vasculature PTB - Cervical incompetence has been associated CS - Increased malpresentation and labour dystocia Pregnancy-associated HTN - Attributed to coexistent congenital renal abnormalities, or abnormal uterine vasculature Fetal malpresentation - small uterine cavity --> inhibit fetal movement Rupture of rudimentary horn Subseptate / septate - Risk of miscarriage

Answer 25

Most defects are likely to be related to polygenic and multifactorial causes Three main mechanisms Agenesis or hypoplasia - Leads to variable uterine development and MRKH syndrome Lateral fusion defect - Leads to development of organs that are either symmetric or asymmetric, and non-obstructed or obstructed - e.g. bicornuate uterus, uterus didelphys Vertical fusion defect Leads to development of a transverse vaginal septum, segmental vaginal agenesis, and/or cervical agenesis or dysgenesis

Answer 26

1/2000 Most common outflow tract anomaly Association with endometriosis - consider diagnostic lap is pain continues Excision under GA - cruciate incision and excision of flaps Risk of vaginal stenosis - dilators post-op

Answer 27

Failed fusion and canalisation of urogenital sinus and Mullerian ducts Normal hymenal opening visible without bulging membrane US and MRI required to assess extent and location of septum ``` Consider pre-op dilation to thin septum Suppress menstruation until ready for OT If very thin, excise and anastomose May need skin or bowel graft Dilation post-op to prevent stenosis ```

Answer 28

Up to 50% will have concomitant vaginal agenesis 33% have other associated Mullerian anomalies Traditionally - hysterectomy Now - anastomosis of uterus or vagina - preserves fertility (theoretically)

Answer 29

Normal menstruation and worsening dysmenorrhoea 40% renal anomaly Remove horn laparoscopically - Should be removed due to high rate of rupture if a pregnancy occurs in the horn GnRH analogues pre-op to relieve symptoms Hysteroscopic procedure to open passage Menstrual suppression Treatment (laparoscopic removal) is always recommended even if the horn is communicating

Answer 30

Most common uterine anomaly Either from defect in canalisation of the two fused mullerian ducts or from a defect in resorption of the midline septum Increased risk spontaneous abortion, PTB, breech, abruption Most women with septate uteri (75-80%) will have normal reproductive function Management: resection of the septum hysteroscopically - Some gynaecologists recommend immediate resection, others only if complications, e.g. recurrent miscarriage - Concurrent laparoscopy to decrease risk of perforation and assess exact anomaly of uterus

Answer 31

15-20% also have unilateral anomalies, e.g. obstructed hemivagina and ipsilateral renal agenesis Septated vagina (in 75%) - may cause difficulty with sex or vaginal delivery - can perform excision if symptomatic removal of 1 copy not recommended as worse pregnancy outcomes Investigations: - Renal ultrasound - Commonly associated with renal tract abnormalities (in up to 30%) - Need to perform cervical smears from both cervices Fertility / chance of conceiving is usually not affected May be at increased risk of early miscarriage or recurrent miscarriage Resection of septum, reduces malpresentation but compromises cervical blood supply

Answer 32

Difficulty removing tampons / retained tampons Dyspareunia Heavy / persistent bleeding during period despite using tampon Awareness of two vaginal passages If an obstructive then dysmenorrhoea - progressive pelvic pain and /or cyclical rectal pain and constipation secondary to haematocolpos

Answer 33

Fundus indented >1cm, vagina and cervix generally normal Results from partial rather than complete fusion of Mullerian ducts Associated with cervical incompetence - recommend cervical length assessment No evidence that procedure to join two cavities improves fertility

Answer 34

1 in 5000 women Vaginal agenesis Normal karyotype Variable uterine development - Most patients have a rudimentary non-functioning uterus - 2-7% have a uterus with functioning endometrium Ovaries present therefore normal secondary sexual characteristics External genitalia are normal Vaginal dimple or small pouch

Answer 35

USS +/- MRI Good prognosis with vaginal dilators - effective in 85% - For vagina sufficient for intercourse - Vaginal reconstruction surgery if not effective Psychological support Fertility - Can have own genetic children using ova retrieval and ART with surrogate

Answer 36

Uterine anomalies - T-shaped uterine cavity, hypoplastic cavity Vaginal adhesions, transverse septa Cervical anomalies - hypoplasia, pseudopolyps

Answer 37

1-2.5 per 1000 boys 90% 47, XXY 10% mosaicism (47, XXY / 46XY) High LH and FSH Low serum free and total testosterone ``` Features: Tall stature Mild IQ impairment Female pubes Small balls Breasts Osteoporosis No baldness Impotence Micropenis ```

Answer 38

Loss of X or Y chromosome during meiosis Unlike non-disjunctions, the incidence does not appear to rise with maternal age ~1 in 2500 female births Can occur either in pure or mosaic forms ``` Short stature Gonadal dysgenesis Peripheral oedema Broad chest with wide nips Short neck Renal abnormalities (>60%) Cardiac defects in 20% Obesity and HTN ``` Up to 25% will enter puberty spontaneously, but only 10% will progress through puberty and only 1% will develop ovulatory cycles - More likely in mosaicism

Answer 39

Adolescent women with primary amenorrhoea undergo artificial induction of puberty in conjunction with specialised optimisation of growth - under paediatric endocrinologist Uterine growth should be promoted in anticipation of potential pregnancy through oocyte donation and IVF

Answer 40

- PIH, PET, HELLP (20%) - SGA (25%) - PTB (15%) - Life threatening conditions, aortic dissection, in 2-3% Prepregnancy - Examination of cardiac and general health status - Biscuspid aortic valve and coarctation of the aorta are contraindications for IVF - Always single embryo transfer Antenatal management - Aortic dissection cannot be predicted - Aim BP <140/90

Answer 41

Hypogonadotropic hypogonadism Congenital absence of olfactory neurons and GnRH producing neurons in the brain May be sporadic or inherited Females > males Anosmia Colour blindness Lack of secondary sexual characteristics Primary amenorrhoea

Answer 42

Renal agenesis / renal hypoplasia Horseshoe kidney Ureteric duplication of aberrant path / drainage

Paed and adolescent gynaecologist Flashcards

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