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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
Classical features McCune-Albright Syndrome
Precocious puberty Cafe-au-lait macules Polyostotic fibrous dysplasia
26
Classic presenting sign of precocious puberty in MAS
Vaginal bleeding
26
Common endocrine association in MAS
Hyperthyroidism
27
Characteristic lab findings in MAS
High GH High PRL High LH High FSH Hypophosphataemia and hyperphosphaturia
28
2 types of precocious puberty and differences between them
Central - activation of HPA axis - Elevated LH and FSH - Elevated testosterone/ estradiol Peripheral - No HPA axis activation - Gonadal or exogenous sex steroids
29
NB hx points wrt precocious puberty
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
Ix in precocious puberty
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
Management precocious puberty
Paeds gyn/ endocrine Tx to slow growth velocity and avoid early skeletal maturation Lesion - surgical resection GnRH agonist - suppress puberty
32
Definition and incidence of delayed puberty
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
Pathophysiology of delayed puberty
Constitutional. - 50% cases. +ve. family hx Central/ gonadotropin problem - hypogonadotrophic hypogonadism Peripheral/ gonadal problem - hypergonadotrophic hypogonadism
34
Causes of central delayed puberty
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
Causes of peripheral delayed puberty
Non-functioning gonad - high FSH - abnormal gonad development: turners, klinefelters, swyers, POF, galactossaemia - post chemo/ radio therapy - autoimmune - infections
36
Investigating delayed puberty
Healthy child. - LH, FSH - testosterone in boys/ estradiol in girls Concerning child - TSH, PRL, FBC, ESR
37
Incidence and inheritance of Kallman syndrome
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
Pathophysiology Kallman syndrome
Dysgenesis of olfactory bulb and GnRH neurons (originate. from nose embryologically) Hypogonadotrophic hypogonadism --> decr sex hormones Delayed pubertal development and loss/ decrease sense
39
Clinical features of Kallman syndrome
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
Management of Kallman syndrome
HRT Infertility - exogenous gonadotropins or pulsatile GnRH Bone protection
41
Incidence Klinefelter syndrome
XXY 1 in 650
42
Pathophysiology Klinefelter syndrome
Male hypogonadism 47XXY D/T maternal or paternal non-disjunction during meoisis RF: AMA
43
Clinical features Klinefelter syndrome
Infertility Hypogonadism + small testes Gynaecomastia in adolescence Reduced body hair Tall pear shaped stature Education and psychological problem
44
Diagnosing Klinefelters
Karyotype Infertility screen - oligo-/azoo-spermia Decreased testosterone (hypergonadotrophic hypogonadism) Incr LH and FSH - testes nonresponsive
45
Incidence of Turners
1 in 2000
46
Management of Klinefelters
Testosterone therapy - benefits: --- facial/ body hair --- strenghth/ muscle --- energy level --- libido --- self-confidence --- concentration
47
Pathophysiology Turners syndrome
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
Prenatal signs Turners
Cystic hygroma FGR Non-immune hydrops
49
Postnatal signs Turners
Delayed puberty Amenorrhoea POF/ infertility Gonadal failure Lymphoedema Coarctation Horseshoe kidney Cardiac/ renal anomalies Hypothyroidism Insulin resistance Learning difficulty
50
Clinical features of Turners
Short stature Low set ears Low hairine Webbed neck Small jaw Shield. chest Cubitis valgus Streak ovaries Pigmented naevi
51
Diagnosis of Turners: pre and post natal
Prenatal: - USS: IUGR, fetal oedema, coarctation aorta, cystic hygroma - CVS/ amnio Postnatal: - karyotype - initial screening - ECHO, renal US - TFT - eye exam - scoliosis
52
Management of Turners
Paeds endocrinology Pubertal induction HRT- E, P, GH Fertility specialist - IVF + ovum donation
53
Definition and incidence of MRKH syndrome
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
Classification of MRKH syndrome
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
Embryology of reproductive tract
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
Anatomical abnormalities in types of MRKH syndrome
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
Aetiology and incidence MRKH syndrome
1 in 5000 Familial clustering Polygenic/ multifactorial inheritance WNT4 gene - assoc w gonadal differentiation
58
DDX MRKH sx
cAIS - both w blind ending vagina
59
Diagnosis of MRKH syndrome
2D USS MRI Endocrine profile and karyotype to rule out cAIS Renal US d/t renal anomaly association Hearing test (3% loss)
60
Management MRKH syndrom
Psychological Fertility Creation of neovagina (largest conventional dilator is 7cm_ Non-surgical - dilators Surgical - McIndoe procedure (sigmoid vaginoplastyand Williams vulvovaginoplasty)
61
3 types of outflow tract disorders
Imperforate hymen Transverse vaginal septum Longitudinal septum
62
Defn imperforate hymen
Thin membrane at the junction of the sinovaginal bulb and urogenital sinus
63
Defn, dx and rx transverse vaginal septum
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
Types and presentation of longitudinal septum
Two hemi-uteri and hemi-cervices Difficulty w tampons and intercourse Dysmenorrhoea
65

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