Transcript Precocious Puberty case reviews

Precocious Puberty
case reviews
Nadia Muhi Iddin
Endocrinology PLEAT
Conquest hospital 8/7/2011
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Case 1
• Term baby. Born locally. 2.8Kg
• Primigaravida 18 year old mother.
• Uneventful pregnancy and delivery.
• No significant medical history.
• Family now had a 4 month old baby at
time of child referral to paediatric services.
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3/2008
• GP referral at 3.5 year with 2 month history of breast
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development and rapid growth.
Seen with in a month. Had single episode of vaginal
bleeding & abdominal pain.
No headache or visual symptoms.
Past history of mild eczema.
Breast stage B3 bilateral. No pubic or axillary hair
growth. Family thought is was ( puppy fat)
Height & weight 98th centile (2002 growth chart)
Child now had 2 younger siblings 2 year old sister and 7
month old brother.
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Investigations
• TFT,FSH, LH, 17B oestardiol.
• Urgent MRI Head/Pituitary with
gadolinium under GA.
• Urine steroid profile.
• FBC, LFT, Ca Profile, U&E, creatinine,
Bicarbonate, Iron levels.
• Bone age ( left hand & wrist)
• Pelvic and renal US.
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Blood test results.
Date
LH
FSH
10/03/08 5.1
7.9
02/06/08 0.4
1.2
08/09/09 1.6
4.2
18/01/10 2.4
3.3
15/03/10 3.7
6.3
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Bone age report
Date
Chronological
age
Bone age
10/3/2008
3y 6 months
8.9 years
02/02/2010
5y 5 months
9.1 years
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management
• Diagnosis of Gonadotropin dependant central precocious puberty.
• Discussion with paediatric endocrinologist & parents and maternal
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grandfather.
Discussion with pharmacy for medication.
Managements included Cryptoterone acetate 50mg tablet.
IM injections at hospital. Gonapeptyl depot 3.75mg ( Triptorelin)
6/5/2008.
Further vaginal bleed.
4 weeks interval. Commenced on Decapeptyl SR 11.25mg Tritorelin
IM injection on 12 week interval.
Local appointment with paediatric endocrinologist 1/7/2008.
Offer of referral to CAHMS.
Home care nursing team for the injections.
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Follow up
• 1/2009. Injection interval reduced to 11 weeks. Becomes
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moody before injections.
Illness 9/2009 reduced energy .
Mother coping with appointments and 3 young children.
Started reception year and school support at home. (
play therapy)
7/2009 reduced to 9 weeks interval. LH.FSH not
completely suppressed.
2/2010 reduced to 8 week interval. Mother & child
happy.
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Continued
• 4/2010 family disruption and lost
appointment. Moved with grandparents
• 3/2010 product change needles.
• 2/2010 repeat bone age.
• Follow up 6 monthly and annual with
endocrinologist.
• No concerns started ballet. Went on
holiday.
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Case 2
• Term female baby Born at the Conquest.
• 3425 gm birth weight. 11/2005
• Admitted at 5 weeks for RSV Bronchiolitis.
• Admitted at 10 weeks with croup.
• Admitted at 11 moths swallowed a
dishwasher calgon tablet.
• Presented at 2years 5months because of
rapid Growth in the last year. HV referral.
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History
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Always big baby with length near 91 centile.
Parents tall mid parental height 91st centile-98th.
Currently in 5-6 year old cloths.
Older brother of 7 years and a shorter 5 year old
brother.
Current height and weight above 99.8th centile.
Grown 4.8cm in 4 months.
HV referral.
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Examination
• Pubic hair stage 2
• Breast stage 3
• Body odour
• White vaginal discharge.
• No headaches, visual symptoms, faints or
fits.
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Investigations
• FBC,LFT,U&E, Creatinine. Bicarbonate.
• Ca profile and protein
• TFT,LH,FSH,IGF1,oestardiol. Prolactine
• Tumour markers AFP, Serum B HCG
• Bone age
• MRI head under GA
• Pelvic & renal US.
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Management
• At age 2 years and 9 months. 8/2008
• Treptoreline ( Gonapeptyl) IM injection.
• Oral Crypriterone acetate.
• Followed in 4 weeks .
• Meetings with family and printed
information. Contact with nurse team.
• Blood stained discharge 9/2008.
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Bone age
Date
Chronological
age
Bone age
2/6/2008
2 y 6 months
7.3 y
12/08/2010
4y 9 months
7.4 y
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Hormonal tests
Date
17.beta
oestradiol
LH
FSH
12/08/08
184pmol/l
3.5
8.9
05/11/09
97
3.0
1.6
14/10/10
<73
0.6
0.9
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Other investigations
• Presenting IGF1:47.3 (4-20)
• Presenting IGFBP3: 3.4 (0.4-2.9)
• Prolactin:1842mU/L. Repeat test 190mU/L
• Urine steroid profile qualitatively normal.
• Pelvic US was difficult but reported both
ovaries mature with follicles. Left
22mmX15mmUterus mature.
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Progress
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10/2008 Blood stained vaginal discharge.
Mother concern about appetite.
3/2009 Reduced injections to every 10 weeks.
11/2009 Mood changes 1 week before
medication.
1/2010 technical difficulties revert to 4 weekly
medication. Stress.
1/2011 Unwell for 3 weeks unrelated illness.
6 monthly and annual follow up. Growth and
endocrine.
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Precocious Puberty
• True precocity refers to an abnormally
early puberty in which physical changes
follow a normal progression and lead to
full sexual maturity.
• Age below 8 years in girls and 9 in boys.
• Variant under age 6 in girls and under 8
for menarche.
• Partial forms of precocious puberty.
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Cause of precocious puberty
Complete/true
(Gonadortopin)
LHRH dependent
Constitutional
(idiopathic)
Organic brain disease:
Tumours, hydrocephalus
Sever head trauma
post infections
irradiation
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Incomplete/ false/LHRH
independent/ pseudo puberty
Girls/ feminising
Ovarian cyst or tumour:
Granulosa theca
cell tumours
Adrenal oestrogen producing
tumour
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Incomplete continued
Boys. Isosexual/ Masculinising
hCG secreting tumours
Adrenal tumours
Lydig cell tumours ,teratoma
Congenital adrenal hyperplasia
21 hydroxylase deficiency
11beta hydroxylase deficiency
Familial testotoxicosis. Familial male precocious puberty
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Incomplete/LHRL in both sexes
• McCune-Albright
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Partial forms of
syndrome
Precocious Puberty
Primary
• Premature thelarche
hypothyroidism. Long • Premature adrenarche
standing
• Premature isolated
Exogenous sex steroid menarche.
exposure.
The 1st 2 are much
more common.
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McCune –Albright syndrome
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Irregular skin pigmentation
Fibrous bone dysplasia
Endocrine autonomy of glands notably ovaries.
Very enlarged ovaries with solitary cysts
Precocious puberty with early vaginal bleeding.
*Gene map locus 20q13.2
Bone fractures
Ref: Geneva foundation for
medical education& research.
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Premature thelarche
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Infant or young girl
Transient/ Cyclical
Often asymmetrical
No growth acceleration or other pubertal
features.
Parallel follicular development but uterus
remains small.
Self limiting but may progress to early puberty.
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Premature adrenache /Pubarche
• Normal mid childhood 6-8 years increase in
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adrenal androgens due to maturation of Zona
reticularis.
Modest growth spurt.
Early pubic hair
Advanced bone age.
More common in girls
If before age 6 or increasing exclude CAH and
adrenal tumours.
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Guide to examination
• Detailed examination in
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girls under 6 years
Abnormal sequence or
virilisation in girls.
Neurological symptoms,
hypertension or abnormal
growth.
Testicular palpation in
boys.
Boys
Infantile testes
Rapid growth
Adrenal
Symmetrical enlarged
Single large testes
Testes
Gonadal tumour
Intracranial
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Issues to consider
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Explanation. 90% Ideopathic in girls.
Support. Child. Family and school
Suppressing medications. GnRh analogues
Monitoring of growth. Rate and puberty.
Bone age.
Monitoring of hormonal levels.
Final height.
Side effects of medication.
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Treatment requires specialist
management
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Gonadotropin depend precocious puberty :Gonadorelin
analogues
Aim:
1. Delay development of secondary sex characteristics
2. Reduce growth velocity
Gonadotropin Independent precocious puberty.
1. Crypterone is a progesterone with anti-androgen
activity used in gonodotropine independent Precocious
Puberty/
2. Testolactone
3. Spironolactone.
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Gonadorelin analogues
• Goserelin. Not licensed for use in children.
Implant 2 manufacturers.
• Leuprorelin acetate.Not licensed for use in children. 1
manufacturer. ( 4 & 12 week)
Subcutaneous or IM injection.
• Triptorelin:
Sub cut or im 3-4 weekly. ( Gonapeptyl)
IM every 3 months ( Decapeptyl SR).
Side effects: Local, GI, asthenia, arthralgia .
• Other products licensed in USA. Products under trial.
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Behavioural interventions
• Peer relationships in school/tall stature.
• Adults raised expectations.
• No evidence of long term psychological
sequel.
• Protection from inappropriate relationships
• Patient education.
• Play therapy & or psychology referral for
child and family with significant issues.
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References
• Hospital paediatrics: A.Milner/D.Hull
• Nelson text book of pediatrics:18th Edition
• BNF for children2010-2011.
• Paediatrics. Clinical guide for nurse
practitioners.
• Essential paediatrics: David Hull
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