Adolescent gynae Flashcards
History and exam findings
Adolescent gynae
History:
Birth event
Childhood development
Head injuries, infections
PMHx
Meds
FHx - parents, siblings
Social/HEADSS - home, school, employment, hobbies, substance use, relationships, sexuality, sexually active - MUST ask alone. Suicide, self harm, risk taking behaviour
Menses onset, frequency, duration
Development, growth, breasts, pubic hair
Associated symptoms - headache, vision changes, loss of smell
Exposure to exogenous steroids
Exam:
Height, weight growth velocity
Tanner staging - breasts, hair
Precocious puberty - definition and differential diagnosis
Definition:
Menses <9years
Secondary sexual characteristics <8years
Differentials:
Central - follow usual onset pattern
* Idiopathic (80%)
* CNS abnormality - tumor, trauma, infection, hydrocephalus,
Peripheral - timing and onset of other characteristics may not be sequential
* Adrenal - CAH or tumor
* HCG tumor - liver, adrenal, ovaries, testicular, choriocarcinoma
* Ovarian tumor - Granulosa cell, sertoli Leydig
* Functional ovarian cyst
* Exogenous oestrogens
* McCune Albright Syndrome
* Thyroid disease
Precocious puberty history examination and investigations
History:
* Timing of onset
* Secondary characteristics and their sequence
* Exogenous hormone exposure
* CNS symptoms - visual field changes, headaches
* Family history - age of puberty
* Abdominal pain, nausea, bloating
* Psychological screen - impact on life
Exam:
* Height, weight, growth velocity
* Tanner staging - Hair distribution, breast development
* Evidence of virilisation
* Abdomen - ?masses
* Fundoscopy, visual field assessment - pituitary lesion, increased ICP
* Cafe au lait spots
Investigation:
* XR L wrist for bone age
* TSH
* Oestradiol
* Testosterone
* LH and FSH
* BhCG
* PRL
* Cortisol
* 17-OHP
* DHEAS
* Androstenedione
* GnRH stimulation to differentiate central from precocious
* USS - pelvis and adrenals
* MRI brain if central suspected
Primary amenorrhoea definition and differential diagnosis
Definition:
- Absent menses without secondary characteristics by age 13
- Absent menses with normal secondary characteristics by age 16
- Absent menses within 3years of breast development
Differentials:
Pregnancy
Anatomical/outflow anomalies
* Müllerian agenesis - MRKH 2nd most common cause
* Imperforate hymen or transverse vaginal septum
* Complete androgen insensitivity (3rd most common cause)
Ovarian insufficiency - Abnormal migration or rapid depletion of germ cells
* Chromosomal (most common cause)
- Turner’s Syndrome
- Gonadal dysgenesis - Pure 46XY (Swyer syndrome) and pure 46XX
- Structural abnormalities of X chromosome
* Single gene mutations
- Fragile X Syndrome
- Galactosaemia
* Enzyme deficiency
* Autoimmune
* Injury
- Chemoradiotherapy
- Infection - mumps
Central
* Hypothalamic
- Excessive exercise
- Anorexia and weight loss
- Psychological stress
- Kallman syndrome - genetic, GnRH deficiency
- Chronic illness
* Pituitary
- Prolactinoma
- Non-functional adenoma
- Inflammation/infiltration: TB, sarcoid, haemachromatosis
- Sheehan’s syndrome
* Constitutional = diagnosis of exclusion!
Endocrine
* PCOS
* Adrenal
- Late onset CAH
- Cushing syndrome
* Thyroid disease
Idiopathic precocious puberty - issues and management
Issues:
* Pyschological distress
* Premature epiphyseal fusion - risk of shorter final stature
Management:
* MDT - paeds endocrinology
* Written information, access to support groups
* Psychosocial support
* May manage conservatively
* Hormone blockers (GnRH agonist eg. Zoladex)
* Menstrual suppression
* Monitor BMD annually
Primary amenorrhoea - history, examination and investigations
History:
* Cyclical pain
* Excessive exercise, dietary intake
* Ever had intercourse - ASK ALONE
* FHx - in particular puberty age
* Childhood - infection, chemoradiation, trauma
* Onset of other sexual characteristics
* Headaches, vision changes
* Galactorrhoea
* Sense of smell
* Social impact
Examination:
* Height, weight, BMI, growth velocity
* Tanner staging
* Evidence of hyperandrogenism - acne, hirsuitism
* Abdomen - ?masses
* External genitala - virlisation, hymen, vaginal length, uterus on bimanual
* Visual field and fundoscopy
* Features of Turners syndrome
Investigations:
* XR wrist for bone age
* BhCG, PRL, TSH, FSH, LH, oestradiol, free testosterone, SHBG
* USS pelvis - uterus, cervix, vagina, ovaries
* Karyotype
* FMR1 mutation if FHx
* Autoimmune screen if Hx of autoimmune disease
* MRI brain if CNS suspected
* (17OHP and DHEAS)
A 4year old has vulval irritation and discharge. What are relevant history, exam, investigations and differential diagnosis?
Differential diagnosis:
* Vulvovaginitis/poor hygiene
* Atrophy
* Lichen sclerosus
* Trauma - accidental or consensual
* Foreign body
* Pinworms
History:
Associated symptoms
Trauma
Foreign objects
Exposure to exogenous oestrogens
Examination: external only
Lichenoid changes
Adhesions
Ulceration
Investigations:
Swab only if looks infective
EUA if concerned foriegn body
How are labial adhesions with poor perineal hygiene in a 4year old managed?
Reasurrance!
Wipe from front to back
Cotton underwear
Regular bathing - can use vinegar, avoid soap irritants
Use protection barrier creams
Consider short course oestrogen cream - caution re PV bleeding, breast swelling
Antibiotics only if swab growth +ve
Surgical division only if persistent/recurrent and severe
A 8yo is seen with precocious puberty, imaging shows a 6cm pelvic mass. What is the differential diagnosis and plan?
Differentials:
* Benign
* Stromal tumor- granulosa cell, sertoliLeydig
* Germ cell tumor - Immature teratoma
* Epithelial tumor
* Borderline
* Metastases
Plan:
* Tumor markers - hCG, AFP, Inhibin, LDH, CA-125
* CT abdo pelvis, CXR or CT chest
* GONC referral for MDM review
* Anaesthetic assessment, G&H, Hb, renal function
* Surgery - midline laparotomy, washings, omental biopsy, unilateral oophorectomy (+ frozen section if available)
* Post op - review histology, counsel re prognosis, recurrence risk, adjuvant treatment, impact on fertility, surveillance plan
Approach to 14year old requesting contraception
Gillick competency - general
Fraser guidelines - contraception specific
- understand the advice
- unable to persuade themto inform parent or guardian
- will likely have intercourse irrespective of contraception
- physical or mental health at risk if doesn’t recieve contraceptive advice
- their best interests require contraception or advice without parental consent
Respect privacy and confidentiality - as long as it is consensual and no safety risks, not with someone >16y
Ascertain if sexually active already
Check consensual
Ascertain who partner is ?age
Encourage them to notify their parents or trusted adult
If already sexually active - pregnancy test, STI screen
Discuss contraception + barriers for STI prevention
Turner’s syndrome
Exam, investigations, management
Exam:
Low hairline, webbed neck, wide spacednipples, short stature
Underdeveloped breasts
Normal pubic hair
Cardiovascular - assess for murmur
Investigations:
Karyotype - 45XO may be mosaic
FSH - high
Oestradiol - low
Echocardiogram
FBC, renal function, urine ACR, lipids, HbA1c
Management:
* MDT
* Psychological support
* Growth hormone
* HRT - 2 years oestrogen then add progesterone. Helps with breast development, downside is earlyepiphyseal fusion - shorter
* Surveillance (check baseline) - cardiovascular (echo, BP, lipids, HbA1c), renal, thyroid, visual, hearing
* Contraception - small possibility (5%) spontaneous conception so need contraception, preconceptual planning - much higher risks.
* Fertility options:
IVF with donor egg
IVF with own egg - if menstruating with residual ovarian function but lower chance success
Surrogacy with donor egg
Adoption
Primary amenorrhoea - management
How do you manage a pregnancy in Turners Syndrome?
Risks, management
Risks:
* Cardiovascular disease - aortic root dissection
* Worsening of pre-existing conditions
* Miscarriage
* IUGR
* GDM
* HTN and PET
* Need for CS - stature increases risk of labour dystocia
* Stillbirth
* Fetal genetic abnormality - especially if mosaic and spontaneous conception
* Mortality 3%
Management:
* MDT
* Echocardiogram - ideally <2y prior to conception - aortic root in particular
* BP surveillance
* Growth surveillance
* Delivery near term
* Psychological support
Premature ovarian insufficiency - differentials and investigations
Differentials:
* Idiopathic
* Turner syndrome -> Karyotype
* Fragile X syndrome -> FMR1 mutation
* Iatrogenic - chemotherapy, radiation, oophorectomyl, uterine artery embolisation
* Infection - Mumps, HIV, TB, Malaria, CMV, Herpes zoster
* Autotimmune
* Metabolic - galactossaemia, 17hydroxylase deficiency
Investigations:
* BhCG
* PRL
* TFTs
* Karyotype
* FMR1 premutation - need pre and post test counselling
* Autosomal test (FOXL2 gene mutation) for BPES
* 21 OH antibodies
* Adrenal corticoantibodies (if unknown and Hx of autoimmune)
* TPO antibodies (see above)
* Brain MRI (if CNS abnormality suspected)
* Only screen for infection if history suggests
* Pelvic USS
Premature ovarian insufficiency - management
Including pregnancy
- MDT
- Psychological support
- Hormone replacement for puberty induction and until usual age of menopause (oestrogen then add progesterone). No assoc with breast cancer in younger age. Benefits = protection against CVD, osteoporosis, dementia. Normalise sexual function
- DEXA scan for BMD - vitamin D, calcium, exercise
- Cardiovascular surveillance
- Contraception - still small chance random ovulation
- Screen for sexual wellbeing, topical oestrogen PV and lubricant
- Impact on other family members - counsel re risk of same but unable to predict, genetic counselling if relevant mutation
- Fertility options
Spontaneous conception (low chance)
IVF - donor oocyte
Surrogate
Adoption
