Case study: A girl aged 15 is referred to an Endocrine Clinic for short stature and delayed puberty

2019-08-12T10:42:11+00:00February 4th, 2019|Case study, Editor's pick|

Case history

A girl aged 15 years and 2 months is referred to the Endocrine Clinic for short stature and delayed puberty.

Read the patient information below and answer Question 1.

Early history

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Early history

  • Born in Malaysia
  • Full term, unknown birth weight, reported as “average”
  • Diagnosed with asthma at age 2 months
  • Immigrated to Canada at age 2 years

Health and medication history

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Health and medication history

  • Previous health issues: recurrent right ear infections
  • No known allergies
  • Immunizations are up to date
  • No history of head trauma
  • No regular medications, but occasional salbutamol for cold-induced asthma
  • Operations: right ear cholesteatoma requiring tympanomastoidectomy
  • Computed tomography after surgery to look at the mastoid bone found possible Chiari malformation, but no follow-up MRI to confirm

School history

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School history

  • Average grades, but feels she has to work harder than peers
  • Has a few friends, reports bullying from other students about her height
  • Extracurricular activities: dance

Family history

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Family history

  • Mom 150.9 cm, delayed menarche at age 14–15 years
  • Dad 168.5 cm, average age for puberty history
  • Mid-parental height centile: just below 10th
  • Two older sisters, age 18 and 20 years, both had menarche at age 12 years
Question 1.

What would your differential diagnoses be? Tick all that would apply

The role of the nurse

Audio Summary

Click here for the audio transcript of Nursing Considerations, narrated by author, Wendy Schwarz

Testing/diagnosis

Question 2.

Which laboratory tests do you think are needed to refine the diagnosis? Tick all that apply
Question 3.

What other tests would you carry out? Tick all that apply

On examination of the patient

  • Height 132.5 cm (<1% for age, –4.35 SD)
  • Weight 29.5 kg (<1%,–-3 SD)
  • BMI 16.9 m2 (7%)
  • Puberty Tanner stage: Axillary hair 1, Breast 1, Pubic hair 1
  • Blood pressure: 84/58 mmHg (<90% for age and height)

Treatment Plan

Laboratory investigations ordered, as well as bone age X-ray and pelvic ultrasound.

Results

Test Result Range Interpretation
LH <1 IU/L 1–54 IU/L Abnormal
FSH <1 IU/L 2–33 IU/L Abnormal
Estradiol <19 pmol/L 90–1500 pmol/L Abnormal
Electrolytes Normal
DHEA-S <0.4 µmol/L 1.5–13 µmol/L Abnormal
TSH 0.02 mIU/L 0.2–4.0 mIU/L Abnormal
FT4 5.6 pmol 10–25 pmol/L Abnormal
Prolactin 21 µg/L 4–25 µg/L Normal
AM cortisol 59 nmol/L 170–500 nmol/L Abnormal
IGF-1 17 µg/L 121–564 µg/L (age)
62-504 µg/L (bone age)
Abnormal
C-reactive protein 0.1 mg/L 0–8 mg/L
CBC Normal
Iron studies Normal
Celiac screen Negative
Karyotype XX

Bone age: Chronologic age of 15 years 2 months with bone age of 10 years

Pelvic ultrasound: Small uterus with no visible endometrium, right ovary small (0.33 mL), left ovary not visualized

Question 4.

Which diagnoses are confirmed/refuted?
Turner syndrome
Constitutional delay
Panhypopituitarism
Other diagnosis
Question 5.

What tests are needed to further refine the diagnosis? Tick all that apply

Follow-up plan: Endocrine stimulation/provocative tests

Results

Test Baseline 30 minutes 60 minutes 90 minutes Interpretation
1 mcg Cortisol 65 nmol/L 183 nmol/L 221 nmol/L Suboptimal
Arginine 0.1 µg/L <0.1 µg/L 0.1 µg/L 0.1 µg/L No response
L-dopa/propanolol 0.1 µg/L 0.1 µg/L 0.2 µg/L 0.1 µg/L No response

MRI: Absent pituitary infundibulum and hypoplastic anterior pituitary gland in the pituitary fossa

Question 6.

What is your final diagnosis?

Management

Question 7.

What is your management plan and in what order would you do this?

Start glucocorticoid replacement
Start growth hormone replacement
Start thyroid replacement
Start puberty induction

Management plan

Started on hydrocortisone 10mg three times daily for 1 week, then started on levothyroxine 50 μg/day.
Started on recombinant human growth hormone 0.18 mg/kg per week (0.026 mg/kg per day) at 1 month after the Free T4 level had increased into the normal range.

Three-month update

Continued on hydrocortisone, levothyroxine, and growth hormone with excellent compliance.
Latest bone age at chronological age 17 years and 5 months is 12 years.

There was discussion with the parents and patient about maximising growth potential before introducing oestrogen, but patient was started on oestrogen replacement (oestradiol transdermal patch 0.375 mg/day) for psychosocial reasons.

By Author Wendy Schwarz
Clinical Resource Nurse, Alberta Children’s Hospital, Calgary, Canada