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Transcript of precocious puberty
Dr. Abdullah Alharbi GRAND ROUND PRESENTATION Thank You For Listening A 6 years and 10 months old Saudi girl referred to endocrine clinic with hx of increase breast size bilaterally since infance, which increased progressively with time, then for the last 6 months, the mother noticed hairs in the pubis and axilla, also noticed adult odor smelling, they also noticed to be taller than her peers.
No hx of similar illness in family, no hx of head trauma or surgery, no hx of drug intake, no hx of CNS infection, no vaginal bleeding.
Mother gave hx that 2 of her sisters from paternal side were that primarly as male then changed to female & on treatment and genitoplasty done.
Also, her brother has hypospadius & left undescended testicle and operated. CASE 2 She is conscious, look well, not dysmorphic, no midline defect, no neurocutaneous stigmata.
Ht: >97% centile.
wt: 50% centile.
breast stage 3
pubic hair stage 2
there is axillary hair
normal external female genitalia. O/E: What is your impression ??
What do you think the important investigations to be done for this patient?? 2 years old girl, came to endocrine clinic because of increase breast size bilaterally since last few months of life which increased progressively.
No hx of maternal or child drug intake.
No hx of CNS infection or trauma.
No hx of vaginal spot.
She developed well "no milestone delay", normal mentality.
No similar illness in the family.
No hx of pubic hair development.
Clinically well, not dysmorphic, no midline defect.
normal female external genitalia, no pubic hair, no skin hypo/hyperpigmentation.
Other systemic examination unremarkable. CASE 1 * bone age: corresponding to chronological age.
* US: kidneys, adrenal, ovaries normal.
* GnRH stimulation test by Gonadoreline 100 micg done which reveal the following results: What is your diagnosis?? OUTLINE Precocious Puberty * bone age:
x ray left hand wrist
chronological age: seven years.
bone age: between 13 years to 13 years & 6 months.
No bone or joint abnormality seen otherwise.
* US pelvis:
Normal. 5+7= (cc) image by anemoneprojectors on Flickr Definition
Approach to child with precocious puberty Puberty is a complex developmental process that begins in late childhood and is characterized by maturation of the HPG axis resulting in the appearance of secondary sexual characteristics and increased growth . Definition:
Based on a cross sectional data obtained in 1960. designated normal age range of pubertal onset as between 8 to 13 yrs in Females and 9 yr 6 mon to 13yr 6 mon in Males.
Based on a study done in US included 17000 Girls looking at age of onset of puberty. In 1999 the Lawson Wilkins Pediatric Endocrine society recommended lowering the normal age of onset of puberty from 8 to 7 yrs in white female and to 6 yrs in African-American Female WHAT IS PRECOCIOUS PUBERTY? Early onset of puberty before 8 years of age in girls
9 Y in boys .
Difficult to ascertain the early age limit because:
-15% of black girls
- 5% of white girls
Breast development at 7 Y of age without associated early menarche
-17.7% of black girls
-2.8 % of white girls
Pubic hair development at 7 Y of age Most cases of PP are 2ry to idiopathic premature maturation of the HPO axis with Gn RH release Affects 1 in 10,000 children
More common in Females (F/M=10/1) PREVELANCE : 1- Central / true precocious puberty
2- Peripheral /GnRH independent precocious puberty
3- Incomplete precocious puberty Types :
80-90% in female, but in male 50-70% secondary to organic causes
a-Space occupying lesion eg. Arachnoid cyst
f-Septooptic dysplasia (congenital)
g-Excessive exposure to sex steroids
(congenital adrenal hyperplasia) CAUSES OF CPP : •The most common type of CNS tumor that cause CPP
•Size & shape do not change significantly over time
•May be associated with seizures (the intrahypothalamic type)
•Rapidly progressing CPP in a child < 2 Y suggest this Dx
•GnRH Rx is satisfactory & safe
•A congenital malformation Hypothalamic hamartomas Purpose of treatment
To gain normal adult height
(Pt with CPP will have an ultimately shortened adult height)
THE TREATMENT OF CHOICE IS A GnRH ANALOGUE
Rx is continued until the progress of puberty is age appropriate
Mechanism of action :
•GnRH agonists [ bind to GnRH receptors
•( competitive inhibition ) [ down regulation of receptor function [decrease gonadotropin secretion [ inhibition of the
•HPO axis [ decrease estrogen secretion [ regression of the
•manifestation of puberty TREATMENT OF CPP: GnRH independent
Due to inappropriate sex hormone secretion or exposure to exogenous sex steroids
LH & FSH levels are low prepubertal , while estrogen increase.
May present with some or all of the physical changes of puberty PERIPHERAL PRECOCIOUS PUBERTY
PPP / Pseudo PP A-Exogenous sex steroids or gonadotropins
B-Abnormal secretion of gonadotropins (rare)
C-Functioning ovarian tumors
e.g Granulosa cell
Mixed germ cell
D-Functional ovarian cysts
E-Adrenal tumors (RARE)
F-Congenital adrenal hyperplasia
G-CHRONIC 1RY HYPOTHYROIDISM
H-McCune-Albright syndrome CAUSES OF PPP : •Café-au-lait spots
•(hyper thyroidism, hyperparath, Cushing S)
•GnRH independent PP
•Polyostotic fibrous dysplasia McCune-Albright syndrome: •CPP is physiologically normal pubertal development that occur at an early age
•increase GnRH stimulation [ increase gonadotropins [ increase ovarian estrogen production & eventual ovulation
•It follows the pattern of pubertal changes that occur in normal puberty
•More common in girls than boys CENTRAL PRECOCIOUS PUBERTY: 1-TREAT THE CAUSE (IF POSSIBLE)
*Testolactone [ aromatase inhibitor , inhibit conversion of testosterone to estrogen
*Ketoconazole [ inhibit steroid biosynthesis
*Cyproterone acetate [ Potent progestin & antiandrogen, inhibit androgens at the receptor level / supress gonadal & adrenal steroidogenesis
* Spironolactone [ inhibit androgens at the receptor level, decrease ovarian androgen production
*Medroxyprogestrone acetate Rx of PPP: •Partial (often transient) pubertal development in the absence of other stigmata of puberty
•Slow progression , no change or waning of the physical
finding may occur
3-PREMATURE MENARCHE INCOMPLETE PRECOCITY:
Premature beast development in the absence of other
signs of sexual maturation
Estradiol level increase
Unilateral or bilateral , without areolar development
< 2 Y of age & non progressive
Follow up should distinguish cases of slow progressing CPP
No Rx is indicated & subsequent normal puberty occur 1-PREMATURE THELARCHE : THE APPEARANCE OF PUBIC HAIR BEFORE 8 Y OF AGE IN GIRLS
Early maturation of the normal pubertal adrenal androgen production “Adrenarche”
It is evidence of premature adrenarche without activation of the HPO axis
Breast development is absent
Puberty occur normally at the appropriate age
Dx by exclusion of CAH, androgen secreting tumors & CPP 2-PREMATURE PUBARCHE: 5+7= •History
•Investigations Approach to child with precocious puberty 3-PREMATURE MENARCHE: Uncommon 5+7= •breast enlargement
•Pubic and axillary hair
•Menarche is usually a late event
•Growth of the penis and scrotum 1- HISTORY: 5+7= 5+7= * 2ry sexual characters (Tanner staging)
* Neurological examination
* Fundoscopy & gross visual field evaluation
* Evidence of hypothyroidism or hyperadrenalism
* Examine the skin for acne, odor, café-au-lait spots, hirsutism
* Abdomen [ masses
* PR 2- PHYSICAL EXAMINATION: 5+7= 1-LAB STUDIES
#DHEA, DHEAS (dehydroepiandrosterone & dehydroepiandrosterone sulfate) [ adrenarche
[ adrenal origion of PPP
TSH, T4 (not a routine requirement in the evaluation of precocious puberty)
LH, FSH, Estradiol
low LH [ LH/FSH ratio < 1 [ Prepubertal gonadotropin
high LH [ LH/FSH ratio > 1 [ Pubertal gonadotropin response
CPP 3-INVESTIGATIONS: 5+7= 100 ugm of GnRH IV
Check FSH & LH baseline, 15, 30, 45, 60, 90, 120 min
[ FSH > LH [ LH > FSH
[LH rise is minimal [LH peak above
[< 10 IU/ml upper limit for
prepubertal GnRH stimulation test: 5+7= GnRH stimulation test: 5+7= 2-Bone age radiography:
Advanced in both CPP & PPP
Premature adrenarche [ slightly increase
Premature thelarche [ Normal
3- CT / MRI of the hypothalamic pituitary region:
Important in all Pt. with suspected CPP or Pt. with
neurological symptoms & signs
Ovaries [ role out ovarian cysts or tumors & to assess size
Uterus [ to assess size ■ 6 Y old with CPP
□14Y old with normal puberty
▲ 16Y old with
2ry to cranio-
5Y old prepubertal WE HAVE TO DIFFERENTIATE BETWEEN CPP & PPP * Onset & progression of symptoms
* Hx of CNS trauma or infection
* Symptoms associated with neurological dysfunction
* Symptoms associated with endocrine dysfunction
* Exposure to exogenous steroids
* Hx of abdominal pain or swelling
* Family Hx of early puberty, short stature Range:
E2 (12-166 pg/ml)
FSH (3.5-12.5 mIU/ml)
LH (2.4-12.6 mIU/ml) * MRI brain (hypothalamic pituitary region):
Normal. Requested investigations: Range:
E2 (12-166 pg/ml)
FSH (3.5-12.5 mIU/ml)
LH (2.4-12.6 mIU/ml) * E2, FSH, LH
* GnRH stimulation test done by giving 100 micg IV which show