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ENDOCRINOLOGY > Puberty > Flashcards

Puberty Flashcards

1
Q

Define the tanner stages (breast)

A
  1. Pre-pubertal. Elevation of papilla only
  2. Breast bud stage. Elevation of breast and papilla as small mound, enlargement of areola.
  3. Further enlargement of breast and areola
  4. Projection of areola and pilla to form a secondary mound above the level of the breast.
  5. Mature stage. Projection of papilla only
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2
Q

Define the tanner stages (pubic hair)

A
  1. Pre-pubertal. No pubic hair
  2. Sparse growth of long, slightly pigmented downy hair, straight or only slightly curled, along labia/base of penis
  3. Hair is darker, coarser and curlier, spreads over the superior junction of labia majora
  4. Adult type hair, but area covered is smaller than most adults (no spread to medial thighs)
  5. Adult hair quality and quantity, spread is to the medial surface of the thighs
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3
Q

What is the average age of menarche

A

12.9 years (Caucasian girls) and 12.3 years (African American girls)

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4
Q

_____ is the most important factor in stimulating maturation of chondrocytes and osteoblasts, ultimately leading to epiphysial fusion

A

Estrogen

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5
Q

In males, LH stimulates the ____ to produce ____ and FSH stimulates the _____ to produce _____

A
  • LH –> Leydig cells –> testosterone
  • FSH –> Sertoli cells –> inhibin
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6
Q

In females, LH stimulates the ____ to produce ____ and FSH stimulates the _____ to produce _____

A
  • LH –> theca cells –> androgens (minor role until menarche)
  • FSH –> granulosa cells –> estrogen and follicles –> inhibin
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7
Q

How long does the mini-puberty of infancy last? Why does it happen?

A
  • Lasts a few months up to 2 years.
  • Happens due to decreased circulating estrogen/testosterone causing reduction of negative inhibition of gonadotropinc
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8
Q

What lab values define central precocious puberty?

A
  • Basal LH over 0.3 U/L
  • Peak LH over 5.5 after Lupron
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9
Q

Increasing the frequency of GnRH pulses _____ the LH:FSH ratio

A

Increases

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10
Q

Define delayed puberty

A

Girl >13 years or boy >14 years without signs of pubertal development

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11
Q

List a differential diagnosis for delayed puberty

A
  • Constitutional delay of growth and puberty
  • Hypogonadotropic hypogonadism
    • CNS disorders (tumors, infection, trauma, irradiation)
    • Isolated hypo hypo (Kallman)
    • Multiple pituitary hormone deficiencies
    • Chronic disease
    • Weight loss/anorexia nervosa
    • Increased physical activity (female athletes)
    • Hypothyroidimsm
    • Prader Willi, Bardet Biefl
  • Hypergonadotropic hypogonadism
    • Males: Klinefelter, cryptorchidism, vanishing testes
    • Females: Turner
    • Primary gonadal failure (chemotherapy, radiation, surgery)
    • XX and XY gonadal dysgenesis
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12
Q

List 3 tumors that cause delayed puberty

A
  • Craniopharyngioma (remember: calcifications!)
  • Germinoma
  • Glioma
  • Astrocytoma
  • Hyperprolactinemia/Prolactinoma
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13
Q

What genes are affected in Kallman syndrome?

A
  • X-linked Kallman syndrome: KAL1
  • Kallman syndrome 2: FGFR1
  • Kallman syndrome 3: PROKR2, PROK2
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14
Q

List 5 genes that can cause hypogonadotropic hypogonadism

A
  • Kallman (KAL1, FGFR1, PROKR2)
  • SF1
  • HESX1
  • LHX3
  • PROP1
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15
Q

List 5 clinical features of Klinefelters

A
  1. Decreased upper to lower segment ratio
  2. Small, firm testes
  3. Increased incidence of developmental delay/personality disorders
  4. Delayed/variable puberty development
  5. Gynecomastia
  6. Tall stature
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16
Q

List 10 clinical features of Turner syndrome

A
  • Short stature
  • Delayed puberty/amenorrhea
  • Streak gonads
  • Structural anomalies of the kidney
  • Vascular anomalies of the left heart (coarctation, bicuspid aortic valve)
  • Hypertension
  • Micrognathia, fish mouth (downturned corners of mouth)
  • Ptosis
  • Low-set or deformed ears
  • Frequent otitis media, hearing loss
  • Broad shield-like chest, widely spaced nipples
  • Hypoplastic areolae
  • Short neck with low posterior hairline, webbing of neck
  • Short fourth metacarpals
  • Cubitus valgus
  • Extensive nevi
  • Hypoplastic nails
  • Normal IQ but difficulty with math/geometry
  • Increased incidence of autoimmune hypothyroidism
17
Q

List a differential diagnosis for precocious puberty

A
  • CENTRAL
    • Idiopathic CPP
    • CNS tumor or hamartoma
  • PERIPHERAL
    • Males: HCG secreting tumor, Leydig cell tumor, familial gonadotropin-independent secual precocity with premature Leydig and germ cell maturation
    • Females: Granulosa cell tumor, follicular cyst
18
Q

Which gonads are more resistant to chemotherapy, ovaries or testes?

A

Ovaries

19
Q

List 7 clinical features of Noonan syndrome

Hint: “Pseudo-Turner”

A
  • Webbed neck
  • Ptosis
  • Short stature
  • Cubitus valgus
  • Lymphedema
  • Triangular facies
  • Pectus excavatum
  • Right heart disease
  • Developmental delay
  • Cryptorchidism
20
Q

Define precocious puberty

A
  • Secondary sexual characteristic before
    • Age 9 in boys
    • Age 8 in girl (controversial, age 7-8 in Caucasians and 6-7 in African American girls MAY be normal but should prompt referral and investigation)
21
Q

List a differential diagnosis for precocious puberty

A
  • CENTRAL
    • Constitutional
    • Idiopathic
    • CNS disorders (tumor, infection, trauma, radiation, following androgen exposure)
  • PERIPHERAL
    • Males: LH/FSH-secreting tumors, excessive androgen production, testicular or adrenal tumors, virilizing CAH, premature Leydig and germinal cell maturation
    • Females: ovarian cysts, estrogen-secreting neoplasm, severe hypothyroidism
    • Males and females: McCune albright syndrome, exogenous androgens/estrogens
22
Q

List 3 chromosomal syndrome associated with precocious puberty

A
  • Williams-Beuren
  • Russell-Silver
  • Temple
  • Prader Willi
  • Rett
23
Q

How do hypothalamic hamartomas cause precocious puberty?

A
  • Secrete GnRH OR
  • Secrete TGF-alpha which stimulates GnRH secretion
24
Q

List 3 tumors that secrete gonadotropins and stimulat precocious puberty in males

A
  • Hepatoma/hepatoblastoma
  • Teratoma/choriocarcinoma of mediastinum, gonas, retroperitoneum, pineal gland
  • CNS germinoma
25
Q

What is Van Wyk-Grumback syndrome?

A

Hypothyroidism causing precocious puberty and galactorrhea

26
Q

List 5 manifestations of McCune Albright syndrome

A
  • Cafe at lait macules
  • Precocious puberty
  • Polyostotic fibrous dysplasia, hearing loss
  • Hyperthyroidism
  • Cushings, adrenal nodules
  • Acromegaly
  • Hyperprolactinemia
  • Hyperparathyroidism
  • Hyperphosphatemic hyperphosphaturia rickets
  • Ovarian cysts

ENDOCRINOLOGY (21 decks)

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