2025 – PAGE 66 – ADOLESCENT MEDICINE
GROWTH HORMONE DEFICIENCY
Short stature from growth hormone deficiency is rare, but findings will include a micropenis or clitoris and hypoglycemia (seizures may be the only clue that a patient has hypoglycemia). There is DEcelerated growth rate. Since the growth velocity is below normal, lines on the growth curve are crossed. This can be diagnosed by seeing a lack of GH release following insulin or arginine stimulation.
CONGENITAL GROWTH HORMONE DEFICIENCY
Congenital growth hormone deficiency will present with a bone age that’s approximately 75% of chronologic age + a decelerated growth rate + WT percentile that’s > HT percentile (unlike constitutional growth delay, in which the percentiles are usually proportional).
PEARL: Although this option may be in the list of answers, it is usually NOT a preferred answer choice. Consider other diagnoses such as Crohn’s Disease, Hypothyroidism, Genetic Short Stature, Constitutional Growth Delay, Turner’s, Hurler’s, Hunter’s, etc., because this is often a distracter on the boards! So know what it is, but also what it is NOT.
ACQUIRED GROWTH HORMONE DEFICIENCY
If a growth hormone deficiency is acquired (probably due to a PITUITARY TUMOR), the patient may have a delayed bone age and sharply DEcelerated growth rate (NEEDS Endocrinology evaluation and NEEDS to have an MRI evaluation for CNS tumor).
PEARL: When considering one pituitary hormone deficiency, ALWAYS check for other pituitary hormone deficiencies as well (FLATPiG = FSH, LH, ACTH, TSH, Prolactin and Growth Hormone). (Oxytocin and Vasopressin/ADH are secreted in the posterior pituitary.)
OTHER CONSIDERATIONS FOR SHORT STATURE
- HYPOTHYROIDISM: Short + Overweight + Delayed bone age ± Constipation ± dry skin
- CONGENITAL ADRENAL HYPERPLASIA (CAH): Hyperandrogenism, premature closure of growth plates. Look for “early puberty” + accelerated growth but a short final height
- NUTRITION DEFICIENCIES: Bone age mirrors chronologic age. Patients who acquire nutritional deficiencies will initially have lower WT percentile while preserving the HT percentile (become thin while still growing), but eventually HT and WT percentiles will become proportional if the malnutrition continues. If the patient has had poor nutrition since birth (developing country), HT and WT percentiles will be equal.
- TURNER’S SYNDROME: Look for amenorrhea, no breasts (or just the presence of breast buds), no/scant hair. It is okay to treat these patients with GROWTH HORMONE but not testosterone! Testosterone is for boys with CONSTITUTIONAL DELAY OF PUBERTY, but only in rare cases.
- ACHONDROPLASIA: Disproportionate percentiles + signs of the disease
TALL STATURE
NOTE: GENETIC predisposition to being tall should be kept in mind.
(DOUBLE TAKE) KLINEFELTER SYNDROME (AKA KLINEFELTER’S)
Klinefelter Syndrome (AKA Klinefelter’s) = XXY. It presents with gynecomastia, small testicles, infertility, and normal intelligence to MILD intellectual disability. Patients may have mild motor or speech delay, tall stature with long arms and legs, and a low upper-to-lower segment ratio. For workup, REFER FOR CHROMOSOMAL ANALYSIS!
MNEMONIC: Gynecomastia = Kalvin Klein FELT HER BREASTS. (Yes, I know Kalvin is misspelled > Klinefelter.)
PEARL: Mild intellectual disability may be described as a patient who is “awkward,” “below average in school,” or even just “shy.” Generally, though, these patients have some learning disabilities, but their IQ can be normal.
PEARL: Someone who is tall with long arms and legs could also be described as having a LOW “upper-to-lower segment ratio.”