Abnormal Puberty

Question 1

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

Answer 1

Puberty

Question 2

Term for breast budding

Answer 2

Thelarche

Question 3

Term for the appearance of pubic hair

Answer 3

Pubarche

Question 4

Term for the onset of menses

Answer 4

Menarche

Question 5

Term for the appearance of Spermatogonia

Answer 5

Spermarche

Question 6

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

Answer 6

Gonadarche

Question 7

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

Answer 7

Adrenarche

Question 8

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

Answer 8

10

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

Question 9

What is the key hormonal event that triggers Puberty

Answer 9

“pulsatile” GnRH

Question 10

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

Answer 10

Inc. muscle mass
Male body fat distribution
Body Hair

Question 11

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

Answer 11

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

Question 12

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

Answer 12

Estradiol

*Progesterone only for Menstruation

Question 13

What do the Tanner Stages judge based off of?

Answer 13

Hair distribution and quality

Breast and Areola development (females)

Question 14

Tanner Stage 1 girls or boys

Answer 14

Preadolescent

no pubic hair

Question 15

Tanner Stage 3 girls

Answer 15

Breast enlargement with no Areola/Papilla mound

Pubic hair fills out but is coarse

Question 16

Tanner Stage 3 boys

Answer 16

Darker, coarser, curlier pubic hair spreading across pubis

Penis and scrotum enlarging in length

Question 17

Tanner Stage 5 girls

Answer 17

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

Question 18

Tanner Stage 5 boys

Answer 18

Adult-like penis and scrotum in size and shape

Pubic hair coarse and full - inverted triangle

Question 19

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

Answer 19

Precocious Puberty

Question 20

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

Answer 20

Primary Amenorrhea

Question 21

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

Answer 21

McCune-Albright Syndrome

Question 22

Mutation responsible for McCune-Albright Syndrome

Answer 22

GNAS1 (G protein constitutive activated)

Question 23

McCune-Albright Syndrome is (sporadic/inherited)

Answer 23

Sporadic

Question 24

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

Answer 24

Aromatase inhibitors (girls) (Letrozole, Anastrozole)
Bisphosphonates (bone lesions)

Question 25

Examples of Aromatase inhibitors for girls with McCune-Albright Syndrome

Answer 25

Letrozole | Anastrozole

Question 26

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

Answer 26

Females (5:1 ratio)

Question 27

Causes of Precocious Puberty are usually...

Answer 27

Idiopathic (especially in females, ~75%)

Question 28

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

Answer 28

Turner Syndrome

Question 29

Turner Syndrome is (sporadic/inherited)

Answer 29

Sporadic (meiotic error)

Question 30

Associated anomalies in Turner Syndrome

Answer 30

``` Bicuspid Aortic valve Coarctation of the Aorta MVP Aortic Aneurysm Hashimotos Renal anomalies ```

Question 31

Treatments for Turner's Syndrome

Answer 31

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

Question 32

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

Answer 32

Androgen Insensitivity Syndrome

Question 33

Inheritance of Androgen Insensitivity Syndrome

Answer 33

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

Question 34

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

Answer 34

Mullerian Agenesis

Question 35

Inheritance of Mullerian Agenesis

Answer 35

AD with incomplete penetrance

Question 36

Treatments for Mullerian Agenesis

Answer 36

Vaginal surgery Uterine transplant IVF

Question 37

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

Answer 37

``` Androgen Insensitivity Syndrome (XY) Mullerian Agenesis (XX) ```

Question 38

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

Answer 38

Androgen Insensitivity Syndrome: XY | Mullerian Agensis: XX

Question 39

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

Answer 39

Kallman Syndrome

Question 40

Common gene mutated in Kallman Syndrome

Answer 40

KAL1 gene (controls GnRH neuron migration)

Question 41

Treatment for Kallman Syndrome (GnRH deficiency)

Answer 41

``` Hormone Replacement (estrogen + progestin) FSH (for conception) ```

Question 42

Most common cause of Delayed Puberty

Answer 42

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

Question 43

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)

Answer 43

5a-Reductase Deficiency

Question 44

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

Answer 44

AMH

Question 45

Which hormone is important for Menstruation

Answer 45

Progesterone