Puberty And Adolescence Flashcards by Sarah Elizabeth

how does McCune Albright syndrome present

2 of 3:
unilateral cafe au lait spots
polyostotic fibrous displasia (deformity and fractures)
autonomous hypersecretion of hormones at a young age (precocious puberty, hyperprolactinaemia, acromegaly, giantism, cushings, hyperthyroid)

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what is the pathological basis for McCune-Albright syndrome

a point mutation in the GNAS1 gene which would usually inhibit GTPase activity
this leads to the persistent activation of cAMP- mediated endocrine secretion

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which conditions may feature cafe au lait macules

neurofibromatosis 1 and 2
tuberous sclerosis
ataxia telangiectasia
Fanconi's anaemia
MEN 1
McCune Albright syndrome - unilateral, coast of maine

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what is the inheritance pattern of congential adrenal hyperplasia

autosomal recessive

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what is the most common form of CAH

21 hydroxylase deficiency
this prevents the production of cortisol (and 80% also aldosterone) leading to the increased production of sex hormones (testosterone)

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what is the presentation of CAH

virilisation of ext genitals in female infants
enlargement of penis and pgmentation of scrotum in male infants
80% of males are salt losing –> adrenal crisis at 1-3 wks
PRECOCIOUS puberty

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how might CAH be detected

increased levels of metabolic precursor 17 alpha hydroxyprogesterone in the blood

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in salt losing CAH what biochemical abnormalities might you see

low plasma sodium
high plasma potassium
metabolic acidosis
hypoglycaemia

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what are the causes of precocious puberty

CENTRAL
idiopathic 
secondary
PERIPHERAL
genetic
precocious breast development
virilisation

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list some secondary central causes of precocious puberty

CP/hydrocephalus/encephalitis
tumours/masses (CRANIOPHARYNGIOMA, neurofibromatosis [optic nerve glioma] hypothalamic hartoma)
trauma
chronic inflammatory conditions
radiotherapy
sexual abuse
adoption

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list 2 genetic peripheral causes of precocious puberty

McCune-Albright syndrome

Testotoxicosis

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list some conditions with precocious breast development in peripheral causes of precocious puberty

premature thelarche
thelarche variant (with increased height velocity +/- cyclical vaginal bleeding)
hypothyroidism (increased TRH)
ovarian cyst

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list three virilising peripheral causes of precocious puberty

adrenarche
CAH
Cushing’s
adrenal tumours

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what is thelarche

isolated breast development
no other symptoms of sexual precocity
happens in infants and preschool children

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what is the management of premature thelarche

usually resolves, just needs follow up

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what might investigations of premature thelarche show

normal bone age
pre-pubertal pelvic USS
oestradiol undetectable in standard assays
LHRH test pronounced FSH response, low LH

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what is adrenarche

adrenal puberty:
acne
BO
pubic and axillary hair
normal genitalia

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what might be shown on investigation for adrenarche

bone age may be advance by 1 yr (esp if overweight)
17OHP normal
testosterone/oestrodiol normal
DHEAS and androstenedione raised

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what is the management of adrenarche

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explanation and reassurance

association with later PCOS - advise to avoid weight gain

who is more likely to go through exaggerated adrenarche

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girls

Mediterranean/indian/african ethnicity

what are the signs of central precocious puberty

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onset < 8 years old CONSONANT
progressive breast development
growth spurt
pubic and axillary hair, BO, acne
mood swings
can lead to menarche untreated

what would you see on investigation of central precocious puberty

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detectable oestriol, LH, FSH
Response to LHRH (LH dominant)
bone age >2 yr advanced
pelvic USS- enlarged ovaries, follicles, endometrial stripe
normal MRI of pituitary

what are the difference between central and peripheral causes of precocious puberty

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CENTRAL: is gonadotrophin dependant and consonant
LHRH >5 LH>FSH

PERIPHERAL
gonadotrophin independant
non-consonant
LHRH < 5 FSH>LH

how is central precocious puberty managed

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GnRH analogue to inhibit LH/FSH secretion which stops at the age of 11-12

what is testotoxicosis

symmetrical enlargement of the testes autosomal dominant due to LH receptor activating mutations

what might investigations of peripheral precocious puberty show

``` detectable oestradiol LH and FSH undetectable LHRH testing shows no response bone age advance by >2 years pelvic USS may show increased size of ovaries and uterus, follicles and endometrial stripe ```

what is the definition of delayed puberty

complete absence of physical signs of puberty by: 13 in females 14 in males more common in boys

what are the main causes of delayed puberty

central failure (hypogonadotrophic hypogonadism) primary gonadal failure (hypergonadotrophic hypogonadism) hyperprolactinaemia PCOS Chronic illness (coeliac, IBD, cyanotic heart disease)

what is the most common cause of delayed puberty

constitutional delay often familial child is short during childhood and has long legs compared to back

list some causes of central failure in delayed puberty

constitutional delay structural abnormalities of hte brain (tumours CRANIOPHARYNGIOMA, infiltration, infections) Kallman's syndrome (isolated LH and FSH deficiency) Low BMI/eating disorders/excessive exercise single gene defects Prada Willi Panhypopituitarism

list some single gene defects which lead to hypogondaotrophic hypogonadism

DAX-1 LHR FSHR leptin and leptin R

list some of the causes of primary gonadal failure

``` Klinefelters XXX females XO Turner's Gonadal dysgensis Testicular/ovarian failure Androgen insensitivity syndrome single gene defects enzyme defects chemotherapy pelvic irradiation bilateral cryptorchism (uncorrected before 8yrs) ```

list some enzyme defects which might lead to hypergonadotrophic hypogonadism

17 alpha hydroxylase 5 alpha reductase 17 ketosteroid reductase

what is kallmann's syndrome

isolated gonadotrophin releasing hormone deficiency most commonly due to mutations in the KAL1 gene affects in 10000 male births

what is associated with Kallmann's syndrome

anosmia (KAL1 also codes for ansomin) occasionally cleft palate renal agenesis cerebral abnormalities (colour blindness)

what is androgen insensitivity syndrome

pts are phenotypically female but genotypically male with male gonadal sex, resulting from insensitivity of tissues to androgens

what is the inheritance pattern of AIS

X-linked recessive | only 2/3 of AIS is inherited

what is puberty

physiological sequence of events characterised by: - development of 2ndry characteristics - acceleration of somatic growth - advancement of bone maturation - behavioural and psychological changes

what is adolescence

transition from childhood dependance to adult autonomy

how is the onset of puberty triggered

in the hypothalamus begins producing larger quantities of GnRH in a pulsatile manner this switches on the production and pulsatile release of LH and then FSH (GONADARCHE)

what is normal adrenarche

activation of the adrenal glands (6-8yrs) can precede puberty by 1 year not under the influence of LH/FSH

what is require for GH production and also has a permissive action on the tissues for GH

thyroid hormone

at what age is peak height velocity reached

12 yrs in girls (B2-3) | 14 yrs in boys (TV 12-15mls)

what is non-consonance

pathological sequence of development not under the guidance of the HPG axis often presents with virilisation from the adrenal glands

what are the physical signs of Turner's

facial: - micrognathia (small chin) - epicanthic folds - low set ears - fish-like mouth - hypertelorism - ptosis - strabismus neck - short webbed neck - redundant skin folds at back of neck - low hairline chest: shield like chest with widely space nipples upperlimb: - short fourth metacarpal/metatarsal - hyperplastic nails - lymphoedema - increased carrying angle of elbow

what are the physical signs of Klinefeltes's

``` soft finely wrinkled hairless facial skin gyaecomastia reduced pubic hair small testes tall ```

what are the physical signs of Prader Willi disease

``` constant hunger - weight gain short stature hypotonia learning difficulties behavioural problems ```

Puberty And Adolescence Flashcards

(47 cards)