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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, system…

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. Here’s a breakdown:

- Also called constitutional delay of growth and puberty (CDGP).

• A normal variant — 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 — LH & FSH)

• Congenital (e.g. Kallmann syndrome — associated with loss of smell)
• Acquired (e.g. brain tumors, head trauma, radiation, infections)

(Problem in the gonads themselves — ovaries or testes — 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: Here’s a clear table summarizing the causes of delayed puberty:

Here’s a clear table summarizing the causes of delayed puberty:

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If you want, I can also give you: ✅ Signs to watch for ✅ When to refer to a doctor ✅ How these causes are usually diagnosed

Just say if you'd like me to! 📋✨

User: When to refer to a doctor

When to refer to a doctor

Assistant: Here’s when to refer a child or adolescent with delayed puberty to a doctor especially a pediatric endocrinologist:

Here’s when to refer a child or adolescent with delayed puberty to a doctor (especially a pediatric endocrinologist):

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- 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 — sometimes normal, but evaluation helps clarify

👉 If puberty hasn’t started by the ages listed, or if there are other red flags → refer.

👉 Earlier referral is better — timely treatment can improve final height and psychological well-being.

If you want, I can also give you: ✅ Basic initial tests doctors often order ✅ Outline of treatment options (when needed)

Would you like me to?

User: Red flags

Red flags

Assistant: Here’s a list of red flags to watch for in cases of delayed puberty — these suggest an underlying problem and warrant p…

Here’s a list of red flags to watch for in cases of delayed puberty — 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 → possible syndromes)

- Headaches, visual changes (blurry vision, double vision → possible pituitary tumor)

• Loss of sense of smell (anosmia → 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 → consider Turner syndrome (short stature, webbed neck, shield chest)

• Boys: Small testes, gynecomastia → 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 — it helps visualize the process. Want to see it? 📋✅

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:

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Step 1: Confirm Delayed Puberty =====
 └─ Girls: No breast development by age 13 OR no menarche by 15
 └─ Boys: No testicular enlargement by age 14

Step 2: Check Growth Pattern
 └─ Is growth normal or slowed?
 └─ Is height below expected based on family (genetic potential)?

Step 3: Look for Red Flags
 └─ Chronic illness?
 └─ Neurological symptoms (headaches, vision changes, anosmia)?
 └─ History of CNS tumor, radiation, trauma?
 └─ Signs of gonadal failure (small testes, amenorrhea, short stature)?
 └─ History of excessive exercise, eating disorder, psychological stress?

Step 4: Basic Labs & Tests
 └─ Bone age X-ray (wrist/hand)
 └─ LH & FSH (low → central cause, high → primary gonadal failure)
 └─ Estradiol (girls) / Testosterone (boys)
 └─ TSH & Free T4 (check for hypothyroidism)
 └─ Prolactin (pituitary function)
 └─ Other tests as needed (celiac screen, inflammatory markers, karyotype)

Step 5: Diagnosis
 └─ Constitutional delay → reassure, monitor
 └─ Chronic illness → treat underlying disease
 └─ Central hypogonadism → MRI brain + treat cause
 └─ Primary gonadal failure → genetic testing, hormone replacement therapy

Step 6: Referral
 └─ Pediatric endocrinologist if cause unclear or if treatment needed

👉 If no red flags and growth is normal → often constitutional delay → reassurance & monitoring.

👉 If red flags or abnormal labs → investigate further → consider specialist referral.

If you want, I can also give you: ✅ Sample lab values that would point to each type of cause ✅ How doctors treat different types of delayed puberty

Just say if you'd like me to! 📚✨

User: Sample lab values

Sample lab values

Assistant: Here’s a helpful table of sample lab values doctors use to distinguish different causes of delayed puberty:

Here’s a helpful table of sample lab values doctors use to distinguish different causes of delayed puberty:

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✅ Low LH/FSH + low sex steroids → central (hypothalamic or pituitary) cause

✅ High LH/FSH + low sex steroids → primary gonadal failure ✅ Normal labs but delayed bone age → likely constitutional delay ✅ Always check for thyroid function and prolactin in evaluation

If you’d 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? 📚✨

User: Yes

Yes

Assistant: Great!

Great! Here’s a clinical example of how doctors might interpret labs step-by-step in a typical case of delayed puberty:

🧑‍⚕️ Case Example 1 — Boy with Delayed Puberty

History:

• 14-year-old boy
• No testicular enlargement yet
• Normal childhood growth, but slowed over past 1–2 years
• No significant illness, no family history of syndromes
• Father had late puberty ("didn’t 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 → Likely Constitutional Delay of Growth & Puberty (CDGP) → Reassurance, monitor for spontaneous puberty over next 6–12 months → If needed, low-dose testosterone can be offered for psychological support

🧑‍⚕️ Case Example 2 — 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 → Primary gonadal failure
• Physical signs + karyotype → Turner syndrome → Referral to pediatric endocrinology → Start estrogen replacement therapy for puberty induction

Summary Flow:

👉 Low LH/FSH + low sex steroids + delayed bone age → think Constitutional Delay or Central cause 👉 High LH/FSH + low sex steroids → think Primary Gonadal Failure 👉 Always check for systemic illness, thyroid problems, and pituitary issues (prolactin, MRI if indicated)

If you’d like, I can also share: ✅ Example of Central Hypogonadism (Kallmann syndrome) ✅ Typical treatments for each type of delayed puberty

Would you like me to continue with those? 🚦📚

User: Kallmann

Kallmann

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? 📚✨