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Reproductive-Week 1/2 > Abnormal Puberty > Flashcards

Abnormal Puberty Flashcards

1
Q

Change from childhood to adulthood with the ability to reproduce; involves the maturation of reproductive organs and secondary sexual characteristics

A

Puberty

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2
Q

Term for breast budding

A

Thelarche

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3
Q

Term for the appearance of pubic hair

A

Pubarche

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4
Q

Term for the onset of menses

A

Menarche

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5
Q

Term for the appearance of Spermatogonia

A

Spermarche

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6
Q

Term for the activation of the Hypothalamus-Pituitary-Gonad axis

A

Gonadarche

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7
Q

Term for the increase of Adrenal Androgen production leading to sexual hair

A

Adrenarche

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8
Q

GnRH production begins by Week ____ of gestation, temporarily active during fetal development

A

10

*remember external sexual characteristics begin around week 8 and finish by week 12

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9
Q

What is the key hormonal event that triggers Puberty

A

“pulsatile” GnRH

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10
Q

Role of Androgens in the development of Secondary Sexual Characteristics in MALES

A

Inc. muscle mass
Male body fat distribution
Body Hair

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11
Q

Role of Androgens in the development of Secondary Sexual Characteristics in FEMALES

A

SQ and Hip Fat Deposition (Estradiol)
Breast Development (Estradiol)
Menstruation (Estradiol and Progesterone)
Body Hair

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12
Q

(Estradiol/Progesterone) has the role of SQ and Hip fat distribution and Breast development in females during Puberty

A

Estradiol

*Progesterone only for Menstruation

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13
Q

What do the Tanner Stages judge based off of?

A

Hair distribution and quality

Breast and Areola development (females)

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14
Q

Tanner Stage 1 girls or boys

A

Preadolescent

no pubic hair

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15
Q

Tanner Stage 3 girls

A

Breast enlargement with no Areola/Papilla mound

Pubic hair fills out but is coarse

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16
Q

Tanner Stage 3 boys

A

Darker, coarser, curlier pubic hair spreading across pubis

Penis and scrotum enlarging in length

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17
Q

Tanner Stage 5 girls

A

Breasts reach final adult size
Areola returns to contour of surrounding breast
Projecting central papilla
Adult pubic hair distribution, covering pubis and medial thighs

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18
Q

Tanner Stage 5 boys

A

Adult-like penis and scrotum in size and shape

Pubic hair coarse and full - inverted triangle

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19
Q

Onset of secondary sexual characteristics EARLY; usually before the age of 7

A

Precocious Puberty

20
Q

Absence of secondary sexual characteristics and menarche by around age 15; never had a period

A

Primary Amenorrhea

21
Q

RARE sporadic cause of precocious puberty due to mutation in G protein gene (constitutive activation); causes autonomous function of endocrine glands; more common in FEMALES; commonly see Cafe-au-lait spots, Fibrous Dysplasia of bone and Follicular cysts

A

McCune-Albright Syndrome

22
Q

Mutation responsible for McCune-Albright Syndrome

A

GNAS1 (G protein constitutive activated)

23
Q

McCune-Albright Syndrome is (sporadic/inherited)

A

Sporadic

24
Q

Treatment for McCune-Albright Syndrome (G protein activating mutation)

A 
Aromatase inhibitors (girls) (Letrozole, Anastrozole)
Bisphosphonates (bone lesions)
25
Q

Examples of Aromatase inhibitors for girls with McCune-Albright Syndrome

A

Letrozole

Anastrozole

26
Q

Precocious puberty is seen more commonly in (males/females)

A

Females (5:1 ratio)

27
Q

Causes of Precocious Puberty are usually…

A

Idiopathic (especially in females, ~75%)

28
Q

Cause of delayed Puberty in females (Primary Amenorhea); SPORADIC meiotic error, resulting in loss of X chromosome; results in gonadal failure or dysgenesis; also associated with Cardiovascular issues (Bicupsid aortic valve, Coarctation of Aorta), Autoimmune disorders (Hashimotos) and Renal anomalies; treat with GH (for height), Hormone replacement and Egg donation

A

Turner Syndrome

29
Q

Turner Syndrome is (sporadic/inherited)

A

Sporadic (meiotic error)

30
Q

Associated anomalies in Turner Syndrome

A 
Bicuspid Aortic valve
Coarctation of the Aorta
MVP
Aortic Aneurysm
Hashimotos
Renal anomalies
31
Q

Treatments for Turner’s Syndrome

A 
GH (for height)
Hormone replacement (bones, breast, etc.)
Egg donation/adoption (gonad dysgenesis)
32
Q

Cause of Delayed Puberty (Primary Amenorrhea); X-linked recessive inheritance; a GENETIC male has an inactivating mutation of Androgen receptor, preventing response to testosterone from Testes and prevents masculinization of genitalia; has FEMALE phenotype as a result, but NO UTERUS or ovaries; treat with removal of Testes, Hormone replacement and Vaginal surgery

A

Androgen Insensitivity Syndrome

33
Q

Inheritance of Androgen Insensitivity Syndrome

A

X-linked recessive (thus, seen more so in males)

34
Q

Cause of Amenorrhea; AD inheritance with incomplete penetrance; failure of the Müllerian duct to develop, resulting in NO UTERUS and variable degrees of vaginal hypoplasia; treat with Vaginal surgery, Uterine transplant and/or IVF

A

Mullerian Agenesis

35
Q

Inheritance of Mullerian Agenesis

A

AD with incomplete penetrance

36
Q

Treatments for Mullerian Agenesis

A

Vaginal surgery
Uterine transplant
IVF

37
Q

What are the two types of Primary Amenorrhea that have normal secondary female characteristics but NO UTERUS

A 
Androgen Insensitivity Syndrome (XY)
Mullerian Agenesis (XX)
38
Q

Difference between Androgen Sensitivity Syndrome and Mullerian Agenesis (both primary amenorrhea without uterus)

A

Androgen Insensitivity Syndrome: XY

Mullerian Agensis: XX

39
Q

Cause of Delayed Puberty (Primary Amenorrhea); a congenital GnRH deficiency, resulting in hypotrophic gonads and sexual characteristics; some due to KAL1 gene mutation (controls neuron migration); treat with Hormone Replacement and FSH

A

Kallman Syndrome

40
Q

Common gene mutated in Kallman Syndrome

A

KAL1 gene (controls GnRH neuron migration)

41
Q

Treatment for Kallman Syndrome (GnRH deficiency)

A 
Hormone Replacement (estrogen + progestin)
FSH (for conception)
42
Q

Most common cause of Delayed Puberty

A

Hypergonadotropic Hypogonadism (high GnRH) (Turner Syndrome or Ovarian Failure)

43
Q

Cause of female characteristics in a GENETIC male; AR inheritance; due to the absence of DHT; results in external female genitalia at birth, but internal male genitalia (presence of Testosterone)

A

5a-Reductase Deficiency

44
Q

Which hormone during male development is important for suppressing the development of Female internal genitalia

A

AMH

45
Q

Which hormone is important for Menstruation

A

Progesterone

Reproductive-Week 1/2 (14 decks)

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