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P2 > Paediatric adolescent gynae > Flashcards

Paediatric adolescent gynae Flashcards

1
Q

Tanner stages of breast development

A

Stage 1 : prepubertal
Stage 2: breast bud w elevation of breast and papilla, enlargement of areola
Stage 3: further enlargement of breast and areola; no separation of their contours
Stage 4: areola and papilla form secondary mound above level of the breast
Stage 5: mature stage w projection of papilla only, related to recession of areola

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2
Q

Causes of discharge

A

Normal/ physiological
- normal flora changes in response to estrogen
Infective
- candida, BV, trichomonas, chlamydia, gonorrhoea, myoplasma, cx warts, herpes
Non-infective
- ectropion, polyp, neoplasm
- trauma
- fistula
- FB/ tampon
- RPOC
- estrogen deficiency

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3
Q

Causes of pre-pubertal discharge

A

Vulvovaginitis (vagina not yet acidic, skin thin)
FB
Precocious puberty
Menarche
Infection
- STI/ threadworm
O/R neoplasm
Ectopic ureter

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4
Q

Defn and incidence of androgen insensitivity syndrome

A

1 in 1000-10000
46XY female phenotype due to resistance to male chromosome
AKA Testicular feminisation syndrome, morris syndrome

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5
Q

Pathophysiology androgen insensitivity syndrome

A

Androgen receptor located on long arm of chromosome
Normal testicular production of androgens but abnormal androgen receptors
Virilisation incomplete at ext genitalia
Testes produce AMH –> mullerian structures regress (uterus, tubes, upper 2/3 vagina) and don’t form

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6
Q

Complete androgen insensitivity syndrome features

A

Complete:
- female genitalia at birth, 1in 20000
- no response to androgens
- 46XY, female phenotype
- immature secondary sex characteristics
- infertility

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7
Q

Partial androgen insensitivity syndrome features

A

Some male features
- e.g. failure of 1 or both testes to descend, ypospadias
- vagina, no cx or uterus
- inguinal hernia with testes
- female breast

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8
Q

Most common presentations of androgen insensitivity syndrome

A

Primary amenorrhoea

Infertility

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9
Q

Clinical features of androgen insensitivity syndrome

A

Normal stature for age
Breast Tanner 5
No axillary hair
Abdo mass (complete) - 1.5cm x 2cm = testes
Ext genitalia - scanty pubic hair, Tanner stage 2, intact annular hymen
- ambiguous genitalia in incomplete AIS
— some virilisation if pAIS, none if cAIS

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10
Q

Investigations in suspected AIS

A

Hormonal profile
Karyotype
Pelvic US

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11
Q

Diagnostic test for AIS

A

Normal rise in testosterone after HCG stim test in presence of ambiguous genitalia or normal female external genitalia

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12
Q

Complications of AIS

A

Infertility
Testicular Ca
Psychosexual

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13
Q

Management of AIS

A

Sexual orientation if dx early
Counsel - no menstruation/ ability to carry pregnancy
Consider gonadectomy - prevent virilisation and 30% malignancy risk
Replace oestrogen
Vaginal lengthening to allow SI

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14
Q

Definition of congenital adrenal yperplasia

A

Autosomal recessive
Lack of adrenal steroid synthesis
Enzyme deficiencies:
- 21-hydroxylase(decreasenaldosterone and cortisol synthesis, increase in androgens)
- 11b-hydroxylase
- 17a-hydroxylase

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15
Q

Clinical features 21-OH def and dx

A

Salt wasting with hypoTN
Ambiguous genitalia

labs:
- decr aldosterone and cortisol
- incr testosterone

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16
Q

Clinical features, defn and dx 11b-OH deficiency

A

Deficiency in aldosterone and cortisol, increase 11-deoxycorticosterone + increase in androgens
Clinical features: hypertension, ambiguous genitalia

Labs:
- decr aldosterone and cortisol
- incr 11-deoxycorticosterone; testosterone

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17
Q

Defn, clinical features and dx 17-OH deficiency

A

Deficiency in androgens and cortisol, increase aldosterone

Clinical features: hypertension
- male: female genitalia
- Females: lack of secondary sex characteristics

Labs:
- incr aldosterone
- decr testosterone, cortisol

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18
Q

Dx and Rx CAH

A

Dx: - measure urine
- bloods
- genetic testing

Mx:
- paeds and endo
- replacement of steroids
– mineralocorticoids: fludrocortisone
– glucocorticoids: hydrocortisone

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19
Q

Incidence and aetiology Swyer syndrome

A

1 in 80 000
46XY- mutation at SRY gene in 10% cases
Inhibits differentiation of embryonic gonads in testes
Karyotype = XY

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20
Q

Clinical features of Swyer syndrome

A

Gonadal dysgenesis
External genitalia = female
Uterus and tubes present, no ovaries
Tall
Absence of pubertal development
30% risk of gonadal malignancy

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21
Q

Presentation / clinical features of Swyer syndrome

A

Primary amenorrhoea
Absent secondary sex characteristics
Tall stature, slightly feminized physique
Mildlympaired IQ
Tendency to lose chest hairs
Osteoporosis
Poor beard growht
Frontal baldness absent
Breast development in 30% cases
Small testes
Female- type pubic hair pattern

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22
Q

Management of Swyer syndrome

A

Puberty induction w HRT
Gonadectomy. - decr risk of malignancy
Long term hormone replacement
IVF/ egg donation

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23
Q

Definition and incidence of precocious puberty

A

Onset pubertal development <8 yo in girls, <9yo in boys
F:M = 5:1

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24
Q

Pathophysiology of precocious puberty

A

Central gonadotrophin dependent = true precocious puberty
- 80% of cases
- brain tumour/ CNS malformation (MALES)
- 75% idiopathic
- Other causes: trauma, infection, hamartoma, neurofibromatosis, hypothyroidism
Peripheral/ pseudopuberty
- 20%
- pathological causes: hohrmone-producing ovarian tumour, exogenous admin oestrogen, McCune- Albright Syndrome (MAS)
- 90% females = idiopathic

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25
Q

Classical features McCune-Albright Syndrome

A

Precocious puberty
Cafe-au-lait macules
Polyostotic fibrous dysplasia

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26
Q

Classic presenting sign of precocious puberty in MAS

A

Vaginal bleeding

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26
Q

Common endocrine association in MAS

A

Hyperthyroidism

27
Q

Characteristic lab findings in MAS

A

High GH
High PRL
High LH
High FSH
Hypophosphataemia and hyperphosphaturia

28
Q

2 types of precocious puberty and differences between them

A

Central
- activation of HPA axis
- Elevated LH and FSH
- Elevated testosterone/ estradiol

Peripheral
- No HPA axis activation
- Gonadal or exogenous sex steroids

29
Q

NB hx points wrt precocious puberty

A

age of onset of thelarche, pubic hair, growth spurts, menarche
Hx CNS problems
Any CNS symptoms - am headaches
Exposure to exogenous sex hormones
Abdo pain - peripheral tumour
Rapidly advancing puberty - adrenal tumours

30
Q

Ix in precocious puberty

A

Bloods
- serum gonadotrophins (inc central/ decr w peripheral)
- serum HCG (hepatoblastoma)
- serum 17-OH

Imaging:
- brain imaging
- pelvic & adrenal imaging
- US: precocious enlargement of ovaries/ uterus
- bone age: often advanced> 2 yrs
- MRI brain w cutdown on pituitary

31
Q

Management precocious puberty

A

Paeds gyn/ endocrine
Tx to slow growth velocity and avoid early skeletal maturation
Lesion - surgical resection
GnRH agonist - suppress puberty

32
Q

Definition and incidence of delayed puberty

A

Absence of secondary sex characteristics
Males: absence of testicular development by 14
Females: absence of thelarche by 13

2.5% healthy boys and girls

33
Q

Pathophysiology of delayed puberty

A

Constitutional. - 50% cases. +ve. family hx

Central/ gonadotropin problem - hypogonadotrophic hypogonadism

Peripheral/ gonadal problem - hypergonadotrophic hypogonadism

34
Q

Causes of central delayed puberty

A

No pituitary/ hypothalamix stimulation of gonads - decr FSH
- chronic illness - DM, CRF, CF
- Anorexia
- excessive exercise
- genetic: Kallman’s
- CNS- pituitary adenoma, panhypopituitarism, hydrocephalus, CNS tumour

35
Q

Causes of peripheral delayed puberty

A

Non-functioning gonad - high FSH
- abnormal gonad development: turners, klinefelters, swyers, POF, galactossaemia
- post chemo/ radio therapy
- autoimmune
- infections

36
Q

Investigating delayed puberty

A

Healthy child. - LH, FSH
- testosterone in boys/ estradiol in girls

Concerning child - TSH, PRL, FBC, ESR

37
Q

Incidence and inheritance of Kallman syndrome

A

F:M 7:1
- 1 in 7500 female, 1 in 50000 male

X linked recessive
- utation in KAL gene; encodes anosmin-1 (–> deficiency of transport proteins)

38
Q

Pathophysiology Kallman syndrome

A

Dysgenesis of olfactory bulb and GnRH neurons (originate. from nose embryologically)
Hypogonadotrophic hypogonadism –> decr sex hormones
Delayed pubertal development and loss/ decrease sense

39
Q

Clinical features of Kallman syndrome

A

Delayed puberty
Anosmia
Hyposmia
Failure of epiphyseal closure
+/- mental retardation
Midline structural defects
LT:
- infertility: male - ED, azoospermia; female - primary amenorrhoea, incomplete breast devel
- osteoporosis

40
Q

Management of Kallman syndrome

A

HRT
Infertility - exogenous gonadotropins or pulsatile GnRH
Bone protection

41
Q

Incidence Klinefelter syndrome

A

XXY

1 in 650

42
Q

Pathophysiology Klinefelter syndrome

A

Male hypogonadism
47XXY
D/T maternal or paternal non-disjunction during meoisis
RF: AMA

43
Q

Clinical features Klinefelter syndrome

A

Infertility
Hypogonadism + small testes
Gynaecomastia in adolescence
Reduced body hair
Tall pear shaped stature
Education and psychological problem

44
Q

Diagnosing Klinefelters

A

Karyotype
Infertility screen - oligo-/azoo-spermia
Decreased testosterone (hypergonadotrophic hypogonadism)
Incr LH and FSH - testes nonresponsive

45
Q

Incidence of Turners

A

1 in 2000

46
Q

Management of Klinefelters

A

Testosterone therapy
- benefits:
— facial/ body hair
— strenghth/ muscle
— energy level
— libido
— self-confidence
— concentration

47
Q

Pathophysiology Turners syndrome

A

Complete or partial monosomy of X chromosome
45XO
Hypogonadism in phenotypic female
>60% due to de novo meiotic nondisjunction of paternal sex chromosome. - XY doesn’t split, then the other is 00
Males can be mosaic

48
Q

Prenatal signs Turners

A

Cystic hygroma
FGR
Non-immune hydrops

49
Q

Postnatal signs Turners

A

Delayed puberty
Amenorrhoea
POF/ infertility
Gonadal failure
Lymphoedema
Coarctation
Horseshoe kidney
Cardiac/ renal anomalies
Hypothyroidism
Insulin resistance
Learning difficulty

50
Q

Clinical features of Turners

A

Short stature
Low set ears
Low hairine
Webbed neck
Small jaw
Shield. chest
Cubitis valgus
Streak ovaries
Pigmented naevi

51
Q

Diagnosis of Turners: pre and post natal

A

Prenatal:
- USS: IUGR, fetal oedema, coarctation aorta, cystic hygroma
- CVS/ amnio

Postnatal:
- karyotype
- initial screening - ECHO, renal US
- TFT
- eye exam
- scoliosis

52
Q

Management of Turners

A

Paeds endocrinology
Pubertal induction
HRT- E, P, GH
Fertility specialist - IVF + ovum donation

53
Q

Definition and incidence of MRKH syndrome

A

Mayer- Rokitansky-Kuster-Hauser syndrome
= Mullerian agenesis
= congenital absence of upper 2/3 vagina and absent rudimentary uterus due to agenesis or hypoplasia of Mullerian ducts

1 in 4000-5000

54
Q

Classification of MRKH syndrome

A
  1. Typical: isolated, symmetrical uterovaginal aplasia/ hypoplasia
  2. Atypical: asymmetrical uterovaginal aplasia or hypoplasia, absence or hypoplasia of one or both fallopian tubes and malformation of ovaries
  3. MURCS/ Mullerian duct aplasia or hypoplasia with malformation in the skeletal system and/or the heart, muscular weakness and renal malformation
55
Q

Embryology of reproductive tract

A

SRY gene on Y chromosome differentiates gonads into testes
Absence of Y –> gonads to ovaries
Mullerian duct appears at week 6, fuses to form repro tract
SRY gene - agenesis of Mullerian duct and promotes growth and development of Wolffian duct

56
Q

Anatomical abnormalities in types of MRKH syndrome

A

1 - typical - caudal portion: two rudimentary uterine buds connected by peritoneal folds and absence of upper vagina
2 - atypical - asymmetrical hypoplasia of uterine bud +/- hypoplasia of tubes
Renal anomalies in 40%

57
Q

Aetiology and incidence MRKH syndrome

A

1 in 5000
Familial clustering
Polygenic/ multifactorial inheritance
WNT4 gene - assoc w gonadal differentiation

58
Q

DDX MRKH sx

A

cAIS - both w blind ending vagina

59
Q

Diagnosis of MRKH syndrome

A

2D USS
MRI
Endocrine profile and karyotype to rule out cAIS
Renal US d/t renal anomaly association
Hearing test (3% loss)

60
Q

Management MRKH syndrom

A

Psychological
Fertility
Creation of neovagina (largest conventional dilator is 7cm_
Non-surgical - dilators
Surgical - McIndoe procedure (sigmoid vaginoplastyand Williams vulvovaginoplasty)

61
Q

3 types of outflow tract disorders

A

Imperforate hymen

Transverse vaginal septum

Longitudinal septum

62
Q

Defn imperforate hymen

A

Thin membrane at the junction of the sinovaginal bulb and urogenital sinus

63
Q

Defn, dx and rx transverse vaginal septum

A

Septae at various lengths of vagina
- 46% in upper vagina
P/W
- cyclical abdo pain in absence of menstruation
- clinically palpable mass
USS: haematocolpos and small haematometra
Rx:
- excision with vaginal mould x 10/7 post op
- vaginal dilators for 3/12

64
Q

Types and presentation of longitudinal septum

A

Two hemi-uteri and hemi-cervices
Difficulty w tampons and intercourse
Dysmenorrhoea

65
Q
A

P2 (11 decks)

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