Puberty disorders

lecture

1. PubertyDisorders
Abdulmoein EidAl-Agha, FRCPCH
Professor of Pediatric Endocrinology,
King Abdulaziz University Hospital,
Website:http://aagha.kau.edu.sa

2. Puberty
•Physiological transition from childhood to
reproductive maturity
•Associated with:
–Growth spurt
–Appearance of both primary and secondary
sexual characteristics in children
–Occurs between 8 and 13 yrs in girls
–Occurs between 9 and 14yrs in boys

4. Puberty: InfluencingFactors
•Genetics:50-80% of variation in pubertal
Timing.
•Environmental factors: nutritional status,
environmental hormonal disruptors ( for
example usage of plastics, nylon or food
products rich with estrogen.
•Obesity:as obese children tend to have
earlier puberty as their adipose tissues
produces Leptin peptide which has
stimulating effects on the hypothalamus.

5. ••

6. PubertyinGirls
SexualChanges
-ShyandIsolated
-Breastenlargement
-Menstrualcycles
Psychological
Changes
-VerySensitive
Somatic
Changes
-Acneandoilyskin
-Increasebodyfat
infeminineareas
-Wideningofpelvis
-Pubic and auxiliary hair growth
-Growth spurt
Increase Carrying angle

7. Secondary sexualChanges
•5stagesfromchildhoodtofullmaturity
described by Dr. Tanner (British citizen).
•Stage 1 is prepubertal, while stage 5 is full
adult.
•In females; 5 stages for breast development
and another 5 stages for Pubic hair.
•In males; 5 stages for genital development and
another 5 stages for Pubic hair.
•Secondarysexualcharacteristics
–startingage8–13yrs ingirls
–startingage9–14yrsinboys

8. TannerStagesFemales

9. Puberty:Girls
•Breastenlargement(Thelarche) usuallyfirst
sign, Oftenbegins unilateralthen become in
both sides.
•Second stage is pubic & axillary hair
development (Adrenarche), in addition to
oily skin & hair with Acne ( this stage is
equally happened in both sexes) due to
adrenal androgens.
•Menarcheusually2-3yrsafterbreast
development.
•Growthspurtpeaksbeforemenarche.

10. Puberty:Girls
Widening of pelvis & carrying angle.
Major increase in bone mineral density.
Increased adipose tissue with typical
female distribution (buttocks, upper thighs
& breast tissues).
95% of growth happened < menarche
Menarche usually by age 13-14 years.
Increased in muscle bulk but not to same
extent as males.

11. Menarche
During puberty estradiol levels fluctuate
widely (reflecting successive waves of
follicular development that fail to reach
ovulatory stage)
Endometriumis affected by estradiol.
Undergoes cycles of proliferation & regression
until point where withdrawal of estrogen
results in the first menstrual bleed (menarche)
Increase of only 5% of final height after
menarche

12. Pubertyinboys
Sexual
Changes
Testicular
enlargement
Spermatogenesis
Psychological
Changes
Aggressive
Positive self-
image and mood
Somatic
Changes
Growthspurt
Facial, pubic
and auxiliary hair
growth
Acneandoilyskin
Voicechange
Widening of
shoulders
Increased muscle
mass
Decreased
adipose
tissue
Gynecomastia(usually
disappearswithin2years)

13. Puberty:Boys
First sign is testicular enlargement (often go
unnoticed ).
Pre-pubertal testicular volume is 1-3 ml
Puberty begins when testicular volume is 4ml
and above.
Penile and scrotal enlargement occur approx
1 yr after testicular enlargement.
Pubic hair appears at same time.

14. TannerStagesMales

15. Orchidometer

16. Pubertal GrowthSpurt:Boys
Occurs later than in females by average 2
years.
Testosterone less of a stimulus to GH
responsiveness than estradiol.
Testosterone required in larger concentrations
to produce same anabolic effect.
Greater and later growth spurt in boys.

17. Finaladultheight
•Puberty usually
completed within 3 -4
yrs of onset
•Left wrist x-ray to
assess bone age
•Final adult height
results from complete
fusion of epiphyses
–Occurs approx 1-2 yrs
after menarche

18. PrecociousPuberty
Ingirls,definedasonsetofpuberty“breast
enlargement”beforeageof8years.
Inboys,definedasonsetofpubertytesticular
enlargementbeforeageof9years.
5timesmorecommoningirlsthan boys.

19. Types
Central,True,GnRHdependent.
89-98%ofcases(majortype)
Peripheral, Pseudo,GnRHIndependent.
10–15%ofcases(notmajortype)
IsolatedForms:
Isolated benign Thelarche.
Isolated benign Adrenarche/Pubarche.

20. Central,True,GnRHdependent
Resultfromprematureactivationof
Hypothalamus-Pituitary-Gonadalaxis
ThepulsatileGnRHsecretionleadsto pulsatile
secretionsofLHandFSHwithsubsequent
releaseofsexsteroids
Similartonormalmechanismbuthappened
earlierthanexpectedage

21. Central,True,GnRHdependent
Etiology
„Idiopathic
mostgirls (90%)
„Secondary
mostboys(70-80%)

22. Central,True,GnRHdependent
CNSdisorders
HypothalamicHamartoma.
Glioma, Astrocytoma, Craniopharyngioma, Ependymoma,
germinoma.
CNSradiationtherapy.
Posttrauma(surgery).
Meningitis, encephalitis, Brainabscesses.
Neurologicalinsult &mentalretardation.
Hydrocephalus.
Prolongedprimaryhypothyroidism.

23. Etiologyofperipheraltype
Gonadal:McCune-Albright,tumor,cyst.
Adrenal:non classical congenital adrenal
hyperplasia,tumors.
Ectopic:hCGsecretingtumors:
Germinoma,Hepatoblastoma.
Exogenoussourceofsex hormone
(contraceptive)
Familialmaledependent(Testotoxicosis)

24. Exogenoussourceofestrogens

25. McCune Albright Syndrome

26. Pubertal Delay
Definition:
Girls:
Lackofbreastdevelopmentby age13 years.
Morethanfiveyearsbetweenbreastgrowthand
menstrualperiod.
Lackofpubichair byage14 years.
Failuretomenstruatebyage16 years.
Boys:
Lackoftesticularenlargementby age14 years.
Lackofpubichairbyage15 years.
Morethanfiveyearstocompletegenital
Enlargement.

27. TYPES
Twomajortypes:
Hypogonadotrophichypogonadism
Hypothalamic-Pituitarydefects
Hypogonadotrophichypogonadism
Gonadalfailure

28. Causes of Hypogonadotrophic
Hypogonadism
Constitutional delay of growth &Puberty.
Malnutrition.
Excessive exercise.
Isolated Gonadotropin deficiency.
Brain tumors:
Craniopharyngioma, Astrocytoma, Glioma,
histiocytosis X, germinoma, prolactinoma.
Iron overload (hemosiderosis)
GnRH receptor abnormalities.

29. ConstitutionaldelayofPuberty
Most common cause of pubertal delay.
Physiological cause.
Delayed puberty often found in siblings or
parents.
Diagnosis of exclusion.
Bone age is delayed & consistent with degree
of pubertal maturation (usually delayed by
2yrs or more.
Often associated with constitutional short
stature.

30. Hypogonadotrophichypogonadism
Rare(~10%)
Hypothalamicdeficiency
GnRHdeficiency-maybeisolatedor associated
withotherfeaturese.g.anosmia(Kallman's
syndrome),cognitiveimpairment anddysmorphic
features(Prader-Willi syndrome).
Pituitarydeficiency
Gonadotropindeficiencyormorecommonlyassociated
with anyformofpan hypopituitarism.

31. KallmanSyndrome
Syndrome of isolated Gonadotropin
deficiency.
Present with anosmia or hypo-osmia.
KAL-1 gene encodes protein (anosmin)
required for GnRH neurons to migrate from
olfactory placode to cribiform plate.
Associated with harelip, cleft palate, and
congenital deafness

32. KallmanSyndrome

33. Syndromesassociatedwithpubertaldelay
Prader-Willisyndrome.
LaurenceMoonsyndrome.
Septo-opticdysplasia.
Bardet-Biedlsyndrome.

34. HypergonadotropicHypogonadism
Sexchromosomeabnormalities:
Klinefelter'ssyndromeinboys(47XXY)
Turner'ssyndromeingirls(45XO)
GonadaldysgenesiswithnormalKaryotype
Gonadaldamage
viral(e.g.mumpsOrchitis)
Iatrogenic (surgical,chemotherapyor
radiotherapy)
Autoimmunedestruction(oftenassociatedwith
other autoimmunedisease).
Gametesgenerallymoresensitivetodamagethat
steroidsecretingcells

35. Klinefelter'ssyndrome

36. Turnersyndrome

38. Chronic illness
Delayinpubertaldevelopmentisvery
commoninthepresenceofanyserious
illnesse.g.chronicrenalfailure,bowelor
liverdiseases.
Progressdependsonthecourseofthe
underlyingdisease.
Endocrinecausesofdelaypuberty
includehypothyroidism,GHdeficiency
andexcessglucocorticoid.

39. LearningPoints(2)
Idiopathiccentralprecociouspubertyina
boyisveryunusualsoearlypubertyin
boysneedsextensiveinvestigation
whichisusuallyunnecessaryinearly
pubertyinagirl
Delayedonsetonpuberty(more than13
yearsingirls,14yearsinboys)ismuch
commonerinboysthangirlsandis
usuallyidiopathic