Society for EndocrinologyEndocrine Nurse Training Course

John MacIntyre CentreUniversity of Edinburgh

Tuesday 30th August 2005

Case Presentation - Precocious Puberty

Stephanie Ward

Paediatric Endocrine Clinical Nurse Specialist

Great Ormond Street Hospital for Children NHS Trust

Details

• M.M.

• 11 ½ months

• Female

• White, Caucasian

Presentation

• From birth noticed to have breast development

• Marked progression of breast development from 6 months

• 6 months - fine blond pubic hair, becoming darker by 7 months

• 6 ½ months - vaginal bleed. Streak of fresh blood in every nappy with occasional mucous. Duration 4 days and no further bleeding

Past Medical and Family History

• No antenatal problems

• Full term SVD - BW kgs

• Uneventful neonatal period

• Well baby

• Fully immunized

• Developmentally normal for age

• Mother diagnosed with hypothyroidism when baby was 5 months old

• Maternal aunt and grandmother have hyperthyroidism

• No other significant family history

Examination and Investigation

• Tanner Pubertal Staging (aged 0.62 yrs/7½ mnths) - B2 P2 A1 M1• Tests performed - Pelvic Ultrasound - LHRH test - PRL/Oestradiol - AFP/Beta – HCG - TFTs - Brain MRI

Investigation Results

• Pelvic Ultrasound - large bulky uterus, measuring approximately 5.3 x 1.5 x 1.8 cms. Thin endometrial stripe. Ovaries could not be visualized. No adrenal or adnexal masses identified.

• LHRH test -

Time 0 minutes 20 minutes 60 minutes

LH (IU/L) 2.5 46.6 25.6

FSH (IU/L) 3.9 14.5 13.8

Investigation Results (continued)

• PRL 247 mU/L

• Oestradiol 605 pmol/L

• Alpha-Fetoprotein (AFP) 30 (0 –10 kU/L)

• Beta-HCG < 1 (0 – 4 IU/L)

• TFTs - TSH 3.6 (< 6 mU/L)

- FT4 24.1 (14 – 23 pmol/L)

Investigation Results (continued)

• Brain MRI - There is a pedunculated non-enhancing mass extending inferiorly from the floor of the third ventricle on the left. The anterior and posterior pituitary glands and infundibulum are normal.

Features are those of a hypothalamic hamartoma.

Plan of Care

• Commencement of GnRH analogue therapy - Gonapeptyl 1.875mgs s.c/i.m. at 0,14 and 28 days, thereafter every four weeks. Initial 6 weeks of Cyproterone Acetate 50mgs/m2/day in 2 divided doses.

• OPA 2 months after commencement of therapy, then at 4-6 monthly intervals, to assess pubertal staging.

• Auxological assessment at OP review to assess growth velocity

• Repeat pelvic ultrasonography if any doubt over suppression, and pituitary MRI

• Therapy to continue for minimum of 9-10 years

Outcome

• Treatment commenced at 0.64 yrs age (7 ½ mths)

• OPA - aged 0.89yrs (10 ½ months)

One more vaginal bleed 5 weeks after commencing therapy, but nothing since then.

Breast development has regressed

Good response to GnRH therapy.

F/UP in 6 months with auxology data.

Future Implications

• Continuity/regularity of four weekly injections of GnRH analogue and potential of breakthrough of symptoms

• Psychological support of family and child given altered physical development and nature of tumour

• Side effect of medication - locally - site irritation/pain

- generally - weight gain

• Potential of PCOS later in life

• Impact on target height

• When to stop GnRH therapy

References• Feuillan, P.P. et al (1999) Reproductive Axis after

discontinuation of Gonadotropin-Releasing Hormone Analog treatment of Girls with Precocious Puberty: Long Term Follow-Up Comparing Girls with Hypothalamic Hamartoma to Those with Idiopathic Precocious Puberty. J Clin End Met. Vol 84 No 1 p44-49.

• Gonapeptyl Data Sheet (2003) - Ferring Pharmaceuticals.

• GOSH (2004) - Shared Care Guidelines – The Management Of Patients with Central Precocious Puberty (CPP) using Gonadotrophin Releasing Hormone Analogues (GnRH) .

References (continued)• Heger S et al (1999) Long-Term Outcome after Depot

Gonadotrophin-Releasing Hormone Agonist Treatment of Central Precocious Puberty: Final Height, Body Proportions, body Composition, bone Mineral Density, and reproductive Function. J Clin End Met. Vol 84 No 12 p4583-4590.

• Jung, H. et al (2003) Association of Morphological Characteristics with Precocious Puberty and/or Gelastic Seizures in Hypothalamic Hamartoma. J Clin End Met. Vol 88 No 10 p4590-4595.

• Partsch C-J et al (1998) Efficacy of the subcutaneous reformulated triptorelin depot in children with central precocious puberty. Acta Paediatr 87: 1240-4.