Case history

A 4-year-old girl is referred to the local paediatric endocrine unit with signs of pubertal development.

A 4-year-old girl – “Valerie” – is referred to the local paediatric endocrine unit with signs of pubertal development.

Medical and family history

Examination

Question 1.

In girls, which endocrine organs control breast development and which control pubic hair development, respectively?

  1. Breast development controlled by adrenal glands and pubic hair growth controlled by ovaries
  2. Breast development controlled by parathyroid glands and pubic hair growth controlled by ovaries
  3. Breast development controlled by ovaries and pubic hair growth controlled by parathyroid glands
  4. Breast development controlled by ovaries and pubic hair growth controlled by adrenal glands
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Question 2.

What is the significance of café-au-lait spots in assessment of a girl with signs of precocious puberty?

  1. That the early maturing girl is drinking too much coffee
  2. Along with precocious puberty, you will find café-au-lait spots in a rare condition called McCune-Albright syndrome
  3. Café-au-lait spots are a classic sign of precocious puberty caused by hyperthyroidism
  4. All the above
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Anthropometrics

  • Valerie
  • Age: 4.0 years
  • Height: 112.2 cm
    • SD: + 2.6
    • Mid-parental height target (MPHT) SD: –0.1
      • tall for parents
  • Weight: 22.8 kg
    • BMI: 18.1
    • BMI SD: 1.5
  • Bone age x-ray: 6.5 years
      • 2.5 years advanced

Click to view growth chart

Question 3.

A 2.5 year advancement in bone age indicates which of the following is the most likely outcome:

  1. Valerie will stop growing earlier than her peers
  2. Valerie will stop growing at the same time as her peers
  3. Valerie will stop growing later than her peers
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Initial biochemistry

  • Free (thyroxine (T4) 16.6 pmol/L (normal range: 10-24)
  • Thyroid Stimulating Hormone (TSH): 3.2 mU/L (normal range: 0.2-5)
  • Prolactin: 79 mu/L (normal range: <400)
  • Testosterone: <0.7 nmol/L (normal range: <2.9)
  • LH: <0.1 IU/L (normal pre-pubertal range: <1)
  • FSH: <0.1 IU/L (normal pre-pubertal range: <1)
  • Oestradiol 924 pmol/L (normal prepubertal range: 0-50)

GnRH stimulation test

GnRH stimulation test (2.5 µg/kg)

Time (mins) LH FSH
0 < 0.1 < 0.1
20 < 0.1 < 0.1
60 < 0.1 < 0.1

Question 4.

Looking at both the results of the GnRH stimulation test and the oestrogen level, what sort of response has Valerie had:

  1. A pre-pubertal response
  2. A pubertal response
  3. Oestrogen production not stimulated by the pituitary gland, ie, independent of the hypothalamic-pituitary-gonadal axis
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Summary 

  • Clinically
  • 4.0 year old girl presenting with vaginal bleeding
  • Tall stature: 112.2cm (SD: + 2.6)
    • Tall for parents (mid-parental height target SD: -0.1)
  • Pubertal staging (Tanner): B3, A2, P2
  • Suprapubic mass arising from the pelvis
  • Biochemistry
  • Elevated oestrogen levels
  • Negative LH, FSH response to GnRH stimulation
    • Gonadotrophin-independent sexual precocity
  • Imaging
    Advanced bone age (2.5 years)
    MRI: large pelvic mass of 15 cm x 10 cm

Question 5.

What is the best treatment option for Valerie:

  1. Refer to surgeons for assessment for potential surgical removal of mass
  2. Treat with a GnRH analogue that would suppress LH and FSH production from the pituitary
  3. Watch and wait to see if mass resolves
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Management

  • Referral was made to the Paediatric Surgical team
  • Surgery: laparotomy
  • Right oophorectomy
    • 14 x 10 cm cystic mass replacing right ovary
      • Histology: cystic in nature, benign
    • Left ovary normal
  • Post operatively: regression of pubertal symptoms and cessation of vaginal bleeding
  • Clinic follow-up to ensure normal pubertal progression

Conclusions

  1. Important to have a good understanding of normal pubertal progress and the physiology of the hypothalamic-pituitary-gonadal axis
  2. Diagnosis is achieved through a step-by-step process
  3. Importance of a good history, including family history of puberty
  4. Always consider the child / young person’s understanding, not just the parents
  5. Disorders of puberty may be complex!


Presented by Lee Martin
Clinical Nurse Specialist
Barts Health NHS Trust, United Kingdom

 

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