Puberty Flashcards
what is the definition of premature puberty
development of secondary sexual characteristics before 8y (female) and 9y (male)
aka precoucious puberty
what are the two types of precoucius puberty
central
periferal
what is central precoucius puberty
dependant of gonadotrophins through premature activation of HPG axis
what is periferal precoucius puberty
actually pseudo precoucious pubert as there are
normal gonadotrophins
but XS sex steriods
what is the mechanism of central precoucius puberty
HPG axis is activated causing an increase in GnRH
Release of FSH and LH causing increase in levels
Activation of gonads causing +in sex hormones
(oestrogen-ovaries or testosterone)
development of secondary sexual characteristics
what is the mechanism of peripheral precoucius puberty
HPG axis not activated, no pituitary hormones produced (GnRH, FSH, LH)
so hormones come from gonads or are exogenous
theres increased oestrogen or testosterone causing development of secondary sexual characteristics
what are causes of central precoucius puberty
idiopathic
hydrocephalus
hypothyroidism
neurofibromatosis
acquired: -infections, tumours, irradiation
what are causes of periferal precoucius puberty
adrenal tumours/ CAH
ovarian tumours
testicular tumours
exogenous sex steriods
how would you manage precoucius puberty
treat underlying cause
GnRH analogues = central
androgen/oestrogen blockers = periferal
- medroxyprogesterone
- testolactone
what is teh definition of Thelarche
development of breast tissue (breast budding)
at what age does thelarche usually occur
6m-2y
what is the presentation of thelarche
palpable breast tissue with some enlargement of the areola
but no separation between the contours of the two breasts
no pubic hair or growth spurt
what is the definition of Adenarche
early pubic hair growth w/o other sexual characteristics
what causes adenarche
early maturation of adrenal glands
why is it important to Ix adenarche
exclude causes of central precaucious puberty such as adrenal tumours
what Ix would you perform for adenarche
US
Urinary steriod profile
what is the treatement of adenarche
if theres no central cause then nothing
is benign and self limiting
what is congenital adrenal hyperplasia
a number of autosomal recessive disorders resulting in adrenal hyperplasia
what is the pathophysiology of congenital adrenal hyperplasia
due to mutations theres a decrease in cortisol en utero
this means the fetal pituitary releases +++ ACTH to try and increase cortisol levels
this causes an overgrowth in adrenal cells
this causes an increasein androgens
what are the two types of patient types in congenital adrenal hyperplasia
salt loosers
non salt loosers
what is the infant presentation of salt loosing congenital adrenal hyperplasia
vomiting
weight loss
floppy baby due to circulatory collapse
@1-3 weeks
this is an adrenal crisis!!
when do non salt loosing congenital adrenal hyperplasiapatients present
at puberty due to precocious puberty
what is the classic phenotype of a male in congenital adrenal hyperplasia
enlarged and overpigmented penis
precoucous puberty
tall and muscular
what is the phenotype of females with congenital adrenal hyperplasia
clitoral hypertrophy + vaginal fusion of the labia
muscular build
precoucious puberty
how would you diagnose congenital adrenal hyperplasia
bloods
- 21-hydroxylase (-)
- 17-hydroxyprogesterone (+)
karyotype testing if genitals are ambiguous
what Ix would yoou perform in a ?adrenal crisis
plasma Na (-)
Plasma K (+)
hypoglycaemia
metabolic acidosis
what is the management of a non salt loosing congenital adrenal hyperplasia
administer glucocorticoids
+/- reconstructive surgery
how do glucocorticoids work in the management of congenital adrenal hyperplasia
decrease ACTH so less andorgens
allows for normal growth and maturation
what is the management of salt loosing congenital adrenal hyperplasia
glucocorticoids = (cortisol replacement)
minaralocorticoids = (aldosterone replacement)
salt suppliments
+/- reconstructive surgery
what is the Mx of an adrenal crisis
IV saline + dextrose
IV hydrocortisone
what can cause disorders of sexual differentiation
XS androgens in females (CAH)
inadequate androgen action in males
gonadotrophen insufficiency (prader - willi ie hypopituitarism)
Ovotesticular disorder
what are the three ways there can be infficient androgen action
androgen insensitivity
inability to convert testosterone to dihydrotestosterone
inability to converst cholesterol to androgens
what enzyme converts testosterone > dihydrotestosterone
5 alpha reductase
what is ovotesticular disorder of sexual differentiation
when the karyotype = XXY
both ovarian and testicular tissue is present
often have a complex external phenotype
how would you Ix problems of disorder of sexual differentiation
karyotype
chromosomal screening
bloods:
- adrenal hormones
- sex hormones
US - gonads + otherinternal structures
how would you manage disorder of sexual differentiation
gender reassignment surgery
gonadectomy
HRT
councelling
- family
- individual
what are the most common types of hypothalamic tumours
hypothalamic glioma
what is the Px of a hypothalamic glioma
precoucious puberty
failure to thrive
cachexia
euphoric
hyperactive
headaches
IC pressure Sx
visual loss
how would you Ix a hypothalamic tumour
CT/MRI - head
how would you manage hypothalamic umours
surgery
+/- adjuvants
what is the differentiation of delayed puberty
absence of pubertal development by 14 (female) and 15 (male)
what are causes of delayed puberty
familial
low gonadotrophins
- systemic: chrons, CF, anorexia
- Hypothalamo-pituitary disorders: IC tumours, panhypopituitarism
Gonadal problems
- in GH, FSH, LH, GnRH
- chromosomal ie turners andkleinfelters
- aquired gonadal damage
what is the Px of delayed puberty
short duing childhood
delayed sexual maturation
Delayed skeletal maturation andbne age
longer legs than trunk
how would you diagnose delayed puberty in males
check testicular volue for pubertal staging
screen for systemic disorders
chech testosterone
chromosomal screen
GnRG stimulation test
how would you Ix delayed puberty in females
LH, FSH testing
chromosomal screen
TFT
GnRH stimulation test
how would you manage delayed puberty
often normal = reassurance
BUT
Oxanarolone in boys as doesnt deveop 2ry sex characteristics then testosterone in men
oestrodiol in females
what is prader-willi syndrome
a generic disorder from deletion of chromosome 15 from father
causing growth, pubertal and neurodevelopmental issues
on US you notice a fetus has:
decreased movements
polyhydramnious
is Breech and you beleve the mum will need c section
what is the cause of this
prader-willi syndrome
what are features of childhood prader-willi syndrome
striabasmus
scoliosis
dev delay
what are teenage features of prader-willi syndrome
+ apetite and weight
short stature
narrowed upper forehead
small hands
OCD like
Hypogonadism
infertility
Hypotonia
what is Kallman syndrome
a genetic disorder causedby multiple genes
causing hypogonadotrophic hypogonadism
thus preventing a person from reaching full puberty
what is the Px of Kallman syndrome
lack of testicular development or amenorrhoea
- gonadotrophins
cleft pallete/lip
cerebra ataxia
total lack of sense of smell!!
2ry osteoporosis + osteopenia
how do ou diagnose Kallman syndrome
tanner stage testicular checks + penis chechs/ breast/menarch checks
bloods
- FSH,LH, testosterone, oestrogen, prolactin
GnRh+hCG stimulation test
smell test
how would you manage Kallman syndrome
oestrogen + progesterone
testosterone
GnRH Pulsatile therapy
