
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
Hover to viewEarly 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
Hover to viewHealth 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
Hover to viewSchool 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
Hover to viewFamily 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
The role of the nurse
Audio Summary
Testing/diagnosis
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
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
Management
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