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Openai/6842ae90-f1b0-8013-890f-f49da7e9b749
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=== Assistant: Here’s an example of delayed puberty caused by Kallmann syndrome — a classic cause of hypogonadotropic hypogonadism cen… === Here’s an example of delayed puberty caused by Kallmann syndrome — a classic cause of hypogonadotropic hypogonadism (central cause): ===== 🧑⚕️ Case Example — Kallmann Syndrome (Boy) ===== History: * 17-year-old boy * No testicular enlargement, no pubic hair, no growth spurt * Very short for age (~5th percentile), no signs of puberty * Complains of poor sense of smell (has had it "as long as he can remember") * No chronic illness or prior radiation/trauma * No family history of delayed puberty Physical exam: * Testicular volume < 4 mL * No pubic hair * Normal arm span and body proportions Initial Labs: | Test | Result | Interpretation | | ------------- | --------------------------------------------------------- | ------------------------------------- | | LH | <0.1 IU/L | Very low | | FSH | 0.3 IU/L | Very low | | Testosterone | <10 ng/dL | Very low | | Bone age | ~14 years (delayed) | Delayed relative to chronological age | | TSH + Free T4 | Normal | No hypothyroidism | | Prolactin | Normal | No pituitary tumor | | MRI brain | Normal pituitary, normal brain, olfactory bulb hypoplasia | Supports Kallmann | Interpretation: * Very low LH/FSH → Central cause (hypogonadotropic hypogonadism) * Low testosterone, delayed bone age * Anosmia (loss of smell) is a classic clue for Kallmann syndrome * MRI shows underdeveloped olfactory bulbs → confirms the diagnosis ===== What is Kallmann syndrome? ===== * A genetic condition affecting GnRH (gonadotropin-releasing hormone) neurons. * Results in absent or delayed puberty + loss of sense of smell (anosmia). * LH and FSH are very low → no stimulation of testes/ovaries → no sex steroids. ===== Treatment: ===== * Hormone replacement to induce puberty: - Boys → low-dose testosterone injections or gel, gradually increasing - Later: If fertility is desired → use pulsatile GnRH or gonadotropins (hCG + FSH). * Ongoing endocrinology follow-up. ===== Summary: ===== | Feature | Kallmann Syndrome | | ------------ | ----------------------------------------- | | LH / FSH | Very low | | Sex steroids | Very low | | Bone age | Delayed | | Smell | Absent (anosmia) | | Imaging | Absent/underdeveloped olfactory bulbs | | Treatment | Hormone replacement ± fertility treatment | If you’d like, I can also give you: ✅ A quick comparison table of Constitutional Delay vs Central Hypogonadism vs Primary Gonadal Failure → many students and doctors use this to memorize patterns. ✅ Or key genetic causes of Kallmann if you're interested. Want me to share the comparison table? 📚✨
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