Paediatric adolescent gynae Flashcards
Tanner stages of breast development
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
Causes of discharge
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
Causes of pre-pubertal discharge
Vulvovaginitis (vagina not yet acidic, skin thin)
FB
Precocious puberty
Menarche
Infection
- STI/ threadworm
O/R neoplasm
Ectopic ureter
Defn and incidence of androgen insensitivity syndrome
1 in 1000-10000
46XY female phenotype due to resistance to male chromosome
AKA Testicular feminisation syndrome, morris syndrome
Pathophysiology androgen insensitivity syndrome
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
Complete androgen insensitivity syndrome features
Complete:
- female genitalia at birth, 1in 20000
- no response to androgens
- 46XY, female phenotype
- immature secondary sex characteristics
- infertility
Partial androgen insensitivity syndrome features
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
Most common presentations of androgen insensitivity syndrome
Primary amenorrhoea
Infertility
Clinical features of androgen insensitivity syndrome
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
Investigations in suspected AIS
Hormonal profile
Karyotype
Pelvic US
Diagnostic test for AIS
Normal rise in testosterone after HCG stim test in presence of ambiguous genitalia or normal female external genitalia
Complications of AIS
Infertility
Testicular Ca
Psychosexual
Management of AIS
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
Definition of congenital adrenal yperplasia
Autosomal recessive
Lack of adrenal steroid synthesis
Enzyme deficiencies:
- 21-hydroxylase(decreasenaldosterone and cortisol synthesis, increase in androgens)
- 11b-hydroxylase
- 17a-hydroxylase
Clinical features 21-OH def and dx
Salt wasting with hypoTN
Ambiguous genitalia
labs:
- decr aldosterone and cortisol
- incr testosterone
Clinical features, defn and dx 11b-OH deficiency
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
Defn, clinical features and dx 17-OH deficiency
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
Dx and Rx CAH
Dx: - measure urine
- bloods
- genetic testing
Mx:
- paeds and endo
- replacement of steroids
– mineralocorticoids: fludrocortisone
– glucocorticoids: hydrocortisone
Incidence and aetiology Swyer syndrome
1 in 80 000
46XY- mutation at SRY gene in 10% cases
Inhibits differentiation of embryonic gonads in testes
Karyotype = XY
Clinical features of Swyer syndrome
Gonadal dysgenesis
External genitalia = female
Uterus and tubes present, no ovaries
Tall
Absence of pubertal development
30% risk of gonadal malignancy
Presentation / clinical features of Swyer syndrome
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
Management of Swyer syndrome
Puberty induction w HRT
Gonadectomy. - decr risk of malignancy
Long term hormone replacement
IVF/ egg donation
Definition and incidence of precocious puberty
Onset pubertal development <8 yo in girls, <9yo in boys
F:M = 5:1
Pathophysiology of precocious puberty
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
Classical features McCune-Albright Syndrome
Precocious puberty
Cafe-au-lait macules
Polyostotic fibrous dysplasia
Classic presenting sign of precocious puberty in MAS
Vaginal bleeding
Common endocrine association in MAS
Hyperthyroidism
Characteristic lab findings in MAS
High GH
High PRL
High LH
High FSH
Hypophosphataemia and hyperphosphaturia
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
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
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
Management precocious puberty
Paeds gyn/ endocrine
Tx to slow growth velocity and avoid early skeletal maturation
Lesion - surgical resection
GnRH agonist - suppress puberty
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
Pathophysiology of delayed puberty
Constitutional. - 50% cases. +ve. family hx
Central/ gonadotropin problem - hypogonadotrophic hypogonadism
Peripheral/ gonadal problem - hypergonadotrophic hypogonadism
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
Causes of peripheral delayed puberty
Non-functioning gonad - high FSH
- abnormal gonad development: turners, klinefelters, swyers, POF, galactossaemia
- post chemo/ radio therapy
- autoimmune
- infections
Investigating delayed puberty
Healthy child. - LH, FSH
- testosterone in boys/ estradiol in girls
Concerning child - TSH, PRL, FBC, ESR
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)
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
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
Management of Kallman syndrome
HRT
Infertility - exogenous gonadotropins or pulsatile GnRH
Bone protection
Incidence Klinefelter syndrome
XXY
1 in 650
Pathophysiology Klinefelter syndrome
Male hypogonadism
47XXY
D/T maternal or paternal non-disjunction during meoisis
RF: AMA
Clinical features Klinefelter syndrome
Infertility
Hypogonadism + small testes
Gynaecomastia in adolescence
Reduced body hair
Tall pear shaped stature
Education and psychological problem
Diagnosing Klinefelters
Karyotype
Infertility screen - oligo-/azoo-spermia
Decreased testosterone (hypergonadotrophic hypogonadism)
Incr LH and FSH - testes nonresponsive
Incidence of Turners
1 in 2000
Management of Klinefelters
Testosterone therapy
- benefits:
— facial/ body hair
— strenghth/ muscle
— energy level
— libido
— self-confidence
— concentration
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
Prenatal signs Turners
Cystic hygroma
FGR
Non-immune hydrops
Postnatal signs Turners
Delayed puberty
Amenorrhoea
POF/ infertility
Gonadal failure
Lymphoedema
Coarctation
Horseshoe kidney
Cardiac/ renal anomalies
Hypothyroidism
Insulin resistance
Learning difficulty
Clinical features of Turners
Short stature
Low set ears
Low hairine
Webbed neck
Small jaw
Shield. chest
Cubitis valgus
Streak ovaries
Pigmented naevi
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
Management of Turners
Paeds endocrinology
Pubertal induction
HRT- E, P, GH
Fertility specialist - IVF + ovum donation
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
Classification of MRKH syndrome
- Typical: isolated, symmetrical uterovaginal aplasia/ hypoplasia
- Atypical: asymmetrical uterovaginal aplasia or hypoplasia, absence or hypoplasia of one or both fallopian tubes and malformation of ovaries
- MURCS/ Mullerian duct aplasia or hypoplasia with malformation in the skeletal system and/or the heart, muscular weakness and renal malformation
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
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%
Aetiology and incidence MRKH syndrome
1 in 5000
Familial clustering
Polygenic/ multifactorial inheritance
WNT4 gene - assoc w gonadal differentiation
DDX MRKH sx
cAIS - both w blind ending vagina
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)
Management MRKH syndrom
Psychological
Fertility
Creation of neovagina (largest conventional dilator is 7cm_
Non-surgical - dilators
Surgical - McIndoe procedure (sigmoid vaginoplastyand Williams vulvovaginoplasty)
3 types of outflow tract disorders
Imperforate hymen
Transverse vaginal septum
Longitudinal septum
Defn imperforate hymen
Thin membrane at the junction of the sinovaginal bulb and urogenital sinus
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
Types and presentation of longitudinal septum
Two hemi-uteri and hemi-cervices
Difficulty w tampons and intercourse
Dysmenorrhoea
