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RC Peds Endo 2023 > Puberty > Flashcards

Puberty Flashcards

1
Q

what do estrogen and progesterone do in puberty female

A

Estrogens stimulate growth of breast ducts
Progesterone stimulates acinar glandular formation.

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1
Q

how are estrogen and testo cleared?

A

both metabolized in liver and excreted in the urine

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2
Q

AMH role

A

males:
- fetal life: AMH suppresses Mullerian dvlpt
- prepuberty: AMH high
- puberty: AMH low

female:
- fetal life: no AMH until week 23
- post natal: AMH = ovarian reserve

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3
Q

Hormones important in Growth Spurt

A

GH and estrogen
- if either or both absent, growth spurt impaired or absent

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4
Q

hCG secreting tumour - what happens to male testes

A

Leydig cells are stimulated by LH (not FSH) so the testis does not grow as large as in normal puberty. (but they do enlarge)

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5
Q

mechanism of earlier puberty in obese females

A

local aromatase activity in adipose tissue

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6
Q

how does estrogen affect growth

A
  • indirectly stimulates IGF-I production by increasing the secretion of GH
  • directly stimulates IGF-I production in cartilage
  • stimulating maturation of the chondrocytes and osteoblasts, ultimately leading to epiphysial fusion
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7
Q

when do boys and girls reach peak mineralization of bone

A

Girls reach peak mineralization between 14 and 16 years of age, whereas boys reach a later peak at 17.5 years

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8
Q

when do adrenals start secreting androgens

A

The adrenal cortex normally secretes the weak androgens dehydroepiandrosterone (DHEA), its sulfate, dehydroepiandrosterone sulfate (DHEAS), and androstenedione in increasing amounts beginning at about 6 to 7 years of age in girls and 7 to 8 years of age in boys

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8
Q

female athletic triad

A

exercise-induced amenorrhea,
premature osteoporosis, and
disordered eating

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9
Q

metabolic changes during puberty

A

boys:
hematocrit rises
high-density lipoprotein (HDL) concentrations fall

both boys and girls
alkaline phosphatase rises normally during the pubertal growth spurt
Serum IGF-I concentrations rise with the pubertal growth spurt, but IGF-I is more closely correlated with sex steroid concentration than with growth rate

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10
Q

when do IGF1 levels peak

A

1 year after peak growth velocity is reached and remain elevated for 4 years thereafter, even though growth rate is decreasing

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11
Q

Causes of delayed central puberty

A

Constitutional delay in growth and adolescence

Central nervous system disorders
- Congenital disorders of the hypothalamus or pituitary
- Tumors
- Other acquired disorders
- Infection
- Trauma
- Irradiation

Defects of the hypothalamic-pituitary axis
- Isolated gonadotropin deficiency
—Kallmann syndrome
—Gonadotropin deficiency with normal sense of smell (Idiopathic Hypogonadotropic Hypogonadism)
- Multiple pituitary hormonal deficiencies
- Miscellaneous disorders
—Syndromes
—Chronic disease
—Weight loss
—Anorexia nervosa
—Increased physical activity in female athletes
—Hypothyroidism

Genetic syndromes
- Prader-Willi syndrome
- Bardet-Biedl syndrome

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12
Q

Causes of Hypergonadotropic hypogonadism

A

Male phenotype
- Klinefelter syndrome (gonadal dysgenesis)
- Enzymatic defects of androgen production
- Anorchia or cryptorchism
- AIS

Female phenotype
- Turner syndrome (gonadal dysgenesis)
- chemotherapy
- gallactosemia

All:
- chemotherapy
- autoimmune
- radiation
- trauma
- Noonan syndrome

XX and XY gonadal dysgenesis

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13
Q

Vanishing testes syndrome

A

46,XY
otherwise normal a
late fetal loss of the testes
normal infantile male genital development, including Wolffian duct formation and Müllerian duct regression.

The testes were presumably present in these patients early in fetal life during sexual differentiation, but degenerated after the 13th week of gestation for unknown reasons

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14
Q

Causes of central precocious puberty

A
  • Constitutional
  • Idiopathic (90% in girls, 50% in boys)
  • Central nervous system disorders
    –Tumors (Cranio, Hypothalamic hamartoma, astrocytoma, glioma, optic glioma, germinoma)
    –hydrocephalus
    –Infection/post encephalitis
    –TBI
    –Radiation
    –Following androgen exposure
    -Profound hypothyroidism
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15
Q

Causes of peripheral PP

A

Males
- Gonadotropin-secreting tumors (hepatoblastoma/hepatoma of liver)
- Excessive androgen production
–Testicular or adrenal tumors
–Virilizing congenital adrenal hyperplasia
–Premature Leydig and germinal cell maturation
- hCG secreting tumours
- testitoxicosis

Females
- Ovarian tumour
– Benign ovarian follicular cysts (most common)
– Juvenile granulosa cell tumor
– Gonadoblastoma
– Granulosa-theca cell ovarian tumors
– Ovarian theca cell ovarian tumour
- Adrenocortical tumours (E-secreting tumours)
- Severe hypothyroidism
- Aromatase excess syndrome
-

Males and females
- McCune-Albright syndrome

Exogenous exposure
Testosterone exposure

16
Q

Primary amenorrhea

A

no period by age 16 yo

17
Q

Causes of secondary amenorrhea

A

tumour(cranio)
1. Pituitary adenoma
2. Kallmann syndrome
3. Malnutrition
4. Anorexia/extreme weight loss
5. Sheehan syndrome
6. Trauma
7. TB
8. Meningitis/Encephalitis
9. History of radiation
10. LCH
11. Sarcoidosis

18
Q

Testitoxicosis
AKA
= what
symptoms when
features
GnRH stim

A

AKA Familial Male Limited Precocious Puberty
AKA Familial gonadotropin-independent PP (premature Leydig and germinal cell maturation)
- AD inheritance

= LH R activated constitutively
- only males

sx usually <4yo

  • testosterone is in the pubertal range
  • gonadotropin and the LH response to exogenous GnRH are in the prepubertal range or lower because autonomous testosterone secretion suppresses endogenous GnRH

Testes have symmetric bilateral moderate enlargement

Accelerated skeletal maturation and rapid growth rate

19
Q

Precocious puberty - contra sexual M and F

A

Males
1) Estrogen-secreting adrenal tumor (rare)
2) Sertoli cell tumors associated with Peutz-Jeghers syndrome

Females
1) Virilizing CAH
2) Androgen-secreting adrenal tumour
- elevation of serum testosterone
- preferentially secrete DHEA
3) Androgen-secreting ovarian tumour
- Leydig cell tumour - sex cord–gonadal stromal tumour
— Secrete testo
- Sertoli cell tumour - sex cord–gonadal stromal tumour
— Can secrete testo or estrogen
- Leydig-Sertoli cell tumour - sex cord–gonadal stromal tumour
— Usually makes androgens, very rarely estrogens

20
Q

Mutations causing PP in M and F

A
  • Males:
    ○ Activating mutation in LH-R = Familial Male-limited PP (FMPP)
    ○ Activating mutation in GNAS = MAS
  • Females (need LH and FSH):
    ○ Activating mutation in GNAS = MAS
    (Not LH-R activating mutation because you also need FSH activiation)
21
Q

S/E GnRH Agonist

A
  • Pain
  • Bleeding
  • Sterile abscess
  • Idiopathic intracranial hypertension
  • Weight gain
  • Withdrawal bleed (initial stimulation)
  • Catch down growth
  • Decrease in BMD (long term use in gender affirming care)
    Allergic reaction
22
Q

Meds causing hypogonadism

A

dopamine antagonist
antipsychotic (via elevated PRL)
GC
opioids
GnRH agonist/antagonist
Sex steroids

23
Amenorrhea DDx
* Pregnancy * Endo * Severe hyperthyroidism * Hypothyroidism * Hyperprolactinemia * Cushing’s syndrome * Congenital disorders of the hypothalamus or pituitary * SOD * Isolated GnRH deficiency * Kallman syndrome * Functional hypothalamic amenorrhea * Weight loss * Anorexia nervosa * Increased physical activity * Stress * Prolonged illness * Chronic disease * IBD * Celiac * T1DM * Anovulatory cycles * Exogenous estrogen/testosterone (including OCP) * Acquired CNS disorders * Granulomatous disease (histiocytosis, sarcoidosis, TB) * CNS infiltrative diseases (ie: LCH, sarcoidosis) * TBI * Post-radiation * CNS Tumors ○ craniopharyngioma * Pituitary tumour ○ PRLoma * Pituitary infarct or apoplexy * Empty sella syndrome * Hyperandrogenism * PCOS * Late-onset CAH * Androgen-secreting ovarian or adrenal tumor * Premature ovarian failure * Autoimmune * Infection * Gonadal dysgenesis ○ 46XY gonadal dysgenesis ○ Mixed gonadal dysgenesis * Fragile X permutation * Chemotherapy and radiotherapy * Idiopathic * Syndrome * Turner * Noonan * Bardet Biedl * Prader Willi * Anatomic (Primary not secondary) * Imperforate hymen * Meyer-Rokitansky-Kuster-Hauser Syndrome (absent Mullerian structures = upper vagina and uterus; ovaries present) * Transverse vaginal septum * Sex reversal * CAIS
24
POI def
amenorrhea x3m FSH>25/30 x 2
25
w/u for POI
- karyotype - genetic testing for Fragile X permutation (FMR1) - Ovarian or Adrenal Antibodies  - Other autoimmune endocrinopathies, especially adrenal insufficiency and hypothyroidism  - Calcium, PTH, TSH   - galactosemia screen - pelvic U/S to look for ovaries and Mullerian structures  
26
POI DDx
SYNDROME/GENETIC: - Turner Syndrome or other abnormalities of X chromosome   - Pre-mutation expansion of fragile X gene (FMR1)  - Galactosemia (GALT) (90% develop POI) - FSHR - FSH receptor defect - APS1 - Steroidogenic enzyme defects: CYP17 deficiency, StAR mutation, aromatase gene mutations, mutations of NR5A1  - Resistance to gonadotropins as seen in PHP   - Mutations of the LH or FSH receptors   - Estrogen biosynthetic defect  - Polymorphisms of inhibin alpha subunit  GONADAL DIFF ISSUE - Gonadal dysgenesis - Gonadal agenesis ACQUIRED - Autoimmune oophoritis  - Infection (mumps) - Radiation - Chemo - Surgery
27
Concerning features w gynecomastia
- Gynecomastia: ≥4 cm, Rapid progression, Galactorrhea, Associated lymphadenopathy - galactorrhea / headaches (ie: prolactinoma) - Associated growth acceleration (ie: aromatase excess) - Prepubertal/post pubertal (Should be mid pubertal onset) - Firm testes - Klinefelter - Testicular mass - testicular tumor - Atypical genitalia (CAH, DSD) - Rapid or precocious virilization (hCG-secreting tumor) - Hepatomegaly (hCG-secreting tumor or chronic liver disease) - Anosmia (Kallmann) - Tall stature (Kallmann, Klinefelter) - Signs of hyperthyroidism - Perioral pigmentation (ie, dark blue to dark brown macules around the mouth or on the buccal mucosa) - may indicate Peutz-Jeghers syndrome, which is associated with an increased risk of Sertoli cell tumors - Stigmata of liver disease (Jaundice and spider angiomata) - Signs of renal disease (edema)
28
meds that cause gynecomastia
- Spironolactone (Reduce androgen synthesis + Peripherally antagonize androgen action + interact with breast estrogen receptors) - Cimetidine (Peripherally antagonize androgen action) - Ketoconazole (Reduce androgen synthesis) - Estrogens - GH - GnRH analogs - 5α-reductase inhibitors - Tricyclic antidepressants - Chemotherapeutic agents - Cardiovascular medications (e.g., digitalis) - Drugs of abuse § Marijuana § Ethanol § Heroin § Amphetamines Anabolic steroids
29
Meds to tx gynecomastia
aromatase inhibitor (anastrazole) selective estrogen receptor blocker (tamoxifen)
30
Mayer, Rokitansky, Kuster, Hauser Syndrome
Ovaries present with uterus absent, misshapen, or small; associated with kidney and spine anomalies in a minority of patients
31
secondary causes of secondary amenorrhea
○ Pituitary tumor ○ Hyperprolactinemia ○ Surgery or radiation ○ Autoimmune ○ Infections ○ Hypotensive event (Sheehan syndrome)
32
Ddx primary amenorrhea w breast development
○ Functional hypogonadotropic hypogonadism (low weight, low estradiol) ○ Turner syndrome (Webbed neck, high FSH) ○ Noonan’s (murmur, low LH on stim) ○ Prader Willi or Bardet Beidl (obesity, low LH on stim) ○ XX and XY gonadal dysgenesis (virilized genitalia, Y chromosome material on FISH) ○ Primary gonadal failure (post-radiation, etc) (normal external genitalia/vaginal atrophy/lack of pubertal development, high FSH) ○ CHH (incomplete or no breast development, LH low on stim) ○ Multiple pituitary hormone deficiencies (midline defect, low LH on stimulation testing) ○ Intact hymen (hematocolpos, normal estradiol) ○ Complete AIS (no virilizing features, Y chromosome on karyotype) ○ PCOS (androgenizing features, elevated testosterone) ○ NCCAH (androgenizing features, elevated 17-OHP)
33
Estrogen effect on growth
increase GH -> increases IGF1 and increases IGF1 in cartilage
34
C/I to testo tx
Polycythemia Breast cancer Prostate cancer ?fertility ?allergy to component of testosterone formulation
35
risks w Estrogen therapy
Thromboembolic disease Hypertriglyceridemia Breast cancer Cholelithiasis Coronary artery disease
36
Investigations for comorbidities in GH excess
Cardiomegaly - ECHO HTN - BP Measurement Visual field defects - Ophthalmology exam Sleep apnea - Sleep study Osteoporosis - Lateral spine x-ray
37
causes of decreased IGF1
GH deficiency Malnutrition Hypothyroidism Liver disease Uncontrolled DM GH insensitivity
38
causes of increased IGF1
age puberty

RC Peds Endo 2023 (17 decks)

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