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{{DISPLAYTITLE:Causes of Delayed Puberty}} ''This conversation was exported from ChatGPT''<ref>{{cite web|title=Causes of Delayed Puberty|url=https://chatgpt.com/share/6842ae90-f1b0-8013-890f-f49da7e9b749|publisher=ChatGPT|access-date=2025-12-17}}</ref> == gpt-4o == === User: What causes delayed puberty === What causes delayed puberty === Assistant: Delayed puberty can be caused by a variety of factors, which broadly fall into three categories: constitutional, systemβ¦ === Delayed puberty can be caused by a variety of factors, which broadly fall into three categories: constitutional, systemic/medical, and primary disorders of the reproductive system. Hereβs a breakdown: ===== - Also called constitutional delay of growth and puberty (CDGP). ===== * A normal variant β the child is otherwise healthy but matures later than peers. * Often runs in families ("late bloomers"). * Puberty eventually proceeds normally without treatment. ===== - Nutritional deficiencies (e.g. malnutrition, anorexia nervosa) ===== * Chronic illnesses (e.g. cystic fibrosis, celiac disease, inflammatory bowel disease) * Endocrine disorders (e.g. hypothyroidism, diabetes) * Chronic kidney or liver disease ===== (Problem with the hypothalamus or pituitary gland, leading to low gonadotropins β LH & FSH) ===== * Congenital (e.g. Kallmann syndrome β associated with loss of smell) * Acquired (e.g. brain tumors, head trauma, radiation, infections) ===== (Problem in the gonads themselves β ovaries or testes β leading to high gonadotropins but low sex steroids) ===== * Chromosomal abnormalities (e.g. Turner syndrome in girls, Klinefelter syndrome in boys) * Gonadal dysgenesis or damage (e.g. chemotherapy, radiation, infection, surgery) ===== - Excessive physical training (e.g. in gymnasts, runners) ===== * Severe psychological stress * Medications (such as corticosteroids or opioids) ===== - Girls: No breast development by age 13 or no menarche (first period) by age 15. ===== * Boys: No testicular enlargement by age 14. If you tell me a little more context (boy or girl, any known conditions, family history, etc.), I can give a more tailored explanation. Would you like me to? === User: Table === Table === Assistant: Hereβs a clear table summarizing the causes of delayed puberty: === Hereβs a clear table summarizing the causes of delayed puberty: | | | | | --- | --- | --- | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | If you want, I can also give you: β Signs to watch for β When to refer to a doctor β How these causes are usually diagnosed Just say if you'd like me to! πβ¨ === User: When to refer to a doctor === When to refer to a doctor === Assistant: Hereβs when to refer a child or adolescent with delayed puberty to a doctor especially a pediatric endocrinologist: === Hereβs when to refer a child or adolescent with delayed puberty to a doctor (especially a pediatric endocrinologist): ===== | | | ===== | --- | --- | | | | | | | ===== - Growth concerns - Very short stature or growth slowing (crossing down percentiles) - Height below genetic potential (compared to parents) ===== * Signs of chronic illness - Fatigue, weight loss, diarrhea, abnormal labs * Psychological distress - Significant distress about lack of puberty compared to peers * Signs of underlying endocrine problems - Cold intolerance, constipation (possible hypothyroidism) - Poor sense of smell (Kallmann syndrome) - Visual problems or headaches (possible pituitary tumor) * Signs of gonadal failure - Streak ovaries or primary amenorrhea in girls - Small testes, gynecomastia in boys * History of treatments - Previous chemotherapy or radiation - CNS tumors or surgeries * Family history - Genetic syndromes or delayed puberty in family β sometimes normal, but evaluation helps clarify ===== π If puberty hasnβt started by the ages listed, or if there are other red flags β refer. ===== π Earlier referral is better β timely treatment can improve final height and psychological well-being. If you want, I can also give you: β Basic initial tests doctors often order β Outline of treatment options (when needed) Would you like me to? === User: Red flags === Red flags === Assistant: Hereβs a list of red flags to watch for in cases of delayed puberty β these suggest an underlying problem and warrant pβ¦ === Hereβs a list of red flags to watch for in cases of delayed puberty β these suggest an underlying problem and warrant prompt medical evaluation: ===== - Very short stature or growth rate slowing ===== * Crossing down height percentiles on growth chart * Disproportionate body proportions (e.g. long limbs with short trunk β possible syndromes) ===== - Headaches, visual changes (blurry vision, double vision β possible pituitary tumor) ===== * Loss of sense of smell (anosmia β Kallmann syndrome) * Seizures or history of head trauma * History of cranial irradiation or CNS tumor ===== - Chronic diarrhea, weight loss, fatigue (suggesting IBD, celiac disease) ===== * Delayed puberty + signs of hypothyroidism: cold intolerance, constipation, dry skin * Chronic illnesses: cystic fibrosis, kidney disease, liver disease, diabetes ===== - Girls: Primary amenorrhea + no breast development by 13 or no menses by 15 β consider Turner syndrome (short stature, webbed neck, shield chest) ===== * Boys: Small testes, gynecomastia β possible Klinefelter syndrome ===== - Prior chemotherapy or radiation (especially involving brain/pelvis) ===== * Surgery involving brain or gonads ===== - Extreme exercise (gymnastics, distance running) ===== * Eating disorders (anorexia nervosa) * Severe psychological stress or trauma ===== - Family history of early menopause (in females) ===== * Family history of syndromic causes of delayed puberty ===== If delayed puberty is accompanied by poor growth, systemic illness, neurological symptoms, or signs of gonadal failure, it should be investigated carefully. ===== If you want, I can also show you a quick flowchart doctors use for evaluating delayed puberty β it helps visualize the process. Want to see it? πβ === User: Yes === Yes === Assistant: Here is a simple flowchart that shows the basic approach doctors often use to evaluate delayed puberty: === Here is a simple flowchart that shows the basic approach doctors often use to evaluate delayed puberty: ===== <syntaxhighlight lang="plaintext">Step 1: Confirm Delayed Puberty ===== ββ Girls: No breast development by age 13 OR no menarche by 15 ββ Boys: No testicular enlargement by age 14 Step 2: Check Growth Pattern ββ Is growth normal or slowed? ββ Is height below expected based on family (genetic potential)? Step 3: Look for Red Flags ββ Chronic illness? ββ Neurological symptoms (headaches, vision changes, anosmia)? ββ History of CNS tumor, radiation, trauma? ββ Signs of gonadal failure (small testes, amenorrhea, short stature)? ββ History of excessive exercise, eating disorder, psychological stress? Step 4: Basic Labs & Tests ββ Bone age X-ray (wrist/hand) ββ LH & FSH (low β central cause, high β primary gonadal failure) ββ Estradiol (girls) / Testosterone (boys) ββ TSH & Free T4 (check for hypothyroidism) ββ Prolactin (pituitary function) ββ Other tests as needed (celiac screen, inflammatory markers, karyotype) Step 5: Diagnosis ββ Constitutional delay β reassure, monitor ββ Chronic illness β treat underlying disease ββ Central hypogonadism β MRI brain + treat cause ββ Primary gonadal failure β genetic testing, hormone replacement therapy Step 6: Referral ββ Pediatric endocrinologist if cause unclear or if treatment needed </syntaxhighlight> ===== π If no red flags and growth is normal β often constitutional delay β reassurance & monitoring. ===== π If red flags or abnormal labs β investigate further β consider specialist referral. If you want, I can also give you: β Sample lab values that would point to each type of cause β How doctors treat different types of delayed puberty Just say if you'd like me to! πβ¨ === User: Sample lab values === Sample lab values === Assistant: Hereβs a helpful table of sample lab values doctors use to distinguish different causes of delayed puberty: === Hereβs a helpful table of sample lab values doctors use to distinguish different causes of delayed puberty: | | | | | | | --- | --- | --- | --- | --- | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | ===== | | | | ===== | --- | --- | --- | | | | | | | | | | | | | | | | | ===== β Low LH/FSH + low sex steroids β central (hypothalamic or pituitary) cause ===== β High LH/FSH + low sex steroids β primary gonadal failure β Normal labs but delayed bone age β likely constitutional delay β Always check for thyroid function and prolactin in evaluation If youβd like, I can also show a clinical example of how doctors interpret labs step-by-step in a real case of delayed puberty. Want to see an example? πβ¨ === User: Yes === Yes === Assistant: Great! === Great! Hereβs a clinical example of how doctors might interpret labs step-by-step in a typical case of delayed puberty: ===== π§ββοΈ Case Example 1 β Boy with Delayed Puberty ===== History: * 14-year-old boy * No testicular enlargement yet * Normal childhood growth, but slowed over past 1β2 years * No significant illness, no family history of syndromes * Father had late puberty ("didnβt grow until 16") Physical exam: * Testicular volume < 4 mL * No pubic hair * Height ~10th percentile, slightly lower than genetic target Initial Labs: | Test | Result | Interpretation | | ------------- | ------------------------------ | ------------------ | | LH | 0.5 IU/L | Low-normal | | FSH | 1.2 IU/L | Low-normal | | Testosterone | <20 ng/dL | Prepubertal | | Bone age | 12 years (delayed by ~2 years) | Constitutional | | TSH + Free T4 | Normal | No hypothyroidism | | Prolactin | Normal | No pituitary tumor | Interpretation: * Low LH/FSH, low testosterone, delayed bone age, normal other tests β Likely Constitutional Delay of Growth & Puberty (CDGP) β Reassurance, monitor for spontaneous puberty over next 6β12 months β If needed, low-dose testosterone can be offered for psychological support ===== π§ββοΈ Case Example 2 β Girl with Possible Gonadal Failure ===== History: * 15-year-old girl * No breast development, no menses * Short stature (~3rd percentile) * No chronic illness * Physical: Webbed neck, shield chest Initial Labs: | Test | Result | Interpretation | | ------------- | ---------------------- | ------------------ | | LH | 22 IU/L | High | | FSH | 34 IU/L | High | | Estradiol | <10 pg/mL | Very low | | Bone age | Normal | Not delayed | | TSH + Free T4 | Normal | No hypothyroidism | | Prolactin | Normal | No pituitary tumor | | Karyotype | 45,X (Turner syndrome) | Confirmed | Interpretation: * High LH/FSH, low estradiol β Primary gonadal failure * Physical signs + karyotype β Turner syndrome β Referral to pediatric endocrinology β Start estrogen replacement therapy for puberty induction ===== Summary Flow: ===== π Low LH/FSH + low sex steroids + delayed bone age β think Constitutional Delay or Central cause π High LH/FSH + low sex steroids β think Primary Gonadal Failure π Always check for systemic illness, thyroid problems, and pituitary issues (prolactin, MRI if indicated) If youβd like, I can also share: β Example of Central Hypogonadism (Kallmann syndrome) β Typical treatments for each type of delayed puberty Would you like me to continue with those? π¦π === User: Kallmann === Kallmann === Assistant: Hereβs an example of delayed puberty caused by Kallmann syndrome β a classic cause of hypogonadotropic hypogonadism cenβ¦ === Hereβs an example of delayed puberty caused by Kallmann syndrome β a classic cause of hypogonadotropic hypogonadism (central cause): ===== π§ββοΈ Case Example β 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 β 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 β 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 β no stimulation of testes/ovaries β no sex steroids. ===== Treatment: ===== * Hormone replacement to induce puberty: - Boys β low-dose testosterone injections or gel, gradually increasing - Later: If fertility is desired β 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 Β± fertility treatment | If youβd like, I can also give you: β A quick comparison table of Constitutional Delay vs Central Hypogonadism vs Primary Gonadal Failure β many students and doctors use this to memorize patterns. β Or key genetic causes of Kallmann if you're interested. Want me to share the comparison table? πβ¨ == References == <references /> [[Category:ChatGPT Shares]] [[Category:openai]]
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