2025 – PAGE 65 – ADOLESCENT MEDICINE
KALLMANN SYNDROME
Kallmann syndrome is defined as HYPOGONADOTROPIC HYPOGONADISM + ANOSMIA. So low TROPS resulting in low GONADAL hormones. Patients can also have hypoplasia of the optic nerve, absence of septum pellucidum (a midline portion of the brain) and a micropenis. “This is the only disease with a smelling issue on the exam and note that all of the involved organs are midline structures! Nose, pituitary, penis, optic nerve (at least the chiasm), septum!”
HYPERGONADOTROPIC OVARIAN FAILURE
TURNER’S SYNDROME results in hypergonadotropic ovarian failure. The TROPINS are elevated because the patient has no real ovaries to provide hormones and negative feedback.
BASIC WORKUP OF DELAYED PUBERTY
- History, family history and physical exam (Family history of delay? Growth curve suggests slowing or cessation of development? Eating & nutritional issue? Physical signs of a syndrome or disorder? Absent sense of smell?)
- Bone age films help to determine whether the delay is constitutional.
- Other imaging if there is a suspicion that the gonads are abnormal or absent.
- FSH, LH, and either estrogen or testosterone (according to sex) to distinguish primary and secondary problems.
- TSH, FT4, and prolactin
- Karyotype in patients with primary hypogonadism.
SHORT STATURE
PEARL: Note that up to a TWO year delay between bone age and chronologic age is NORMAL.
GENETIC OR FAMILIAL SHORT STATURE
A child with genetic or familial short stature is born with normal length, but the height then decelerates over the first 2 years of life to find the new (genetically determined) curve. Bone age MATCHES real/chronologic age. The patient is likely proportional in height and weight. You can also use the biparental height to help guide you.
PEARL: MIDPARENTAL HEIGHT = [Dad’s height + Mom’s height ± 5 inches or 13 cm] / 2. You ADD length for boys and SUBTRACT it for girls. An acceptable range of height is then 2 inches (5 cm) above or below that. Some authors use 3.3 inches (8.3 cm). Note that there are multiple algebraic ways to calculate the MPI. Please use some sample numbers if you note that the formula looks different than what you were taught.
PEARL: If a child’s parents were malnourished, mid-parental height goes out the window. The kids will be much taller if they have adequate nutrition. “Ever notice how children of immigrant parents are so much taller than their tiny little parents?”
CONSTITUTIONAL GROWTH DELAY (& PUBERTAL DELAY)
With a constitutional growth delay, look for normal growth until about 1 year of age, but then the child will be at around the 5th percentile for HT and WT—probably not less than 3rd percentile. “Delayed bone age which mirrors height age,” so look at a short child whose height matches up with what the bone age films show. This is a DEceleration phenomenon and may not occur until adolescence, but the key is the delayed bone age + delayed puberty. There is often a similar family history. No treatment is needed; the patient will reach normal adult height.