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.
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)
Laboratory investigations ordered, as well as bone age X-ray and pelvic ultrasound.
|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|
|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)
|C-reactive protein||0.1 mg/L||0–8 mg/L|
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
|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
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.
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