Abnormal Puberty Flashcards
Change from childhood to adulthood with the ability to reproduce; involves the maturation of reproductive organs and secondary sexual characteristics
Puberty
Term for breast budding
Thelarche
Term for the appearance of pubic hair
Pubarche
Term for the onset of menses
Menarche
Term for the appearance of Spermatogonia
Spermarche
Term for the activation of the Hypothalamus-Pituitary-Gonad axis
Gonadarche
Term for the increase of Adrenal Androgen production leading to sexual hair
Adrenarche
GnRH production begins by Week ____ of gestation, temporarily active during fetal development
10
*remember external sexual characteristics begin around week 8 and finish by week 12
What is the key hormonal event that triggers Puberty
“pulsatile” GnRH
Role of Androgens in the development of Secondary Sexual Characteristics in MALES
Inc. muscle mass
Male body fat distribution
Body Hair
Role of Androgens in the development of Secondary Sexual Characteristics in FEMALES
SQ and Hip Fat Deposition (Estradiol)
Breast Development (Estradiol)
Menstruation (Estradiol and Progesterone)
Body Hair
(Estradiol/Progesterone) has the role of SQ and Hip fat distribution and Breast development in females during Puberty
Estradiol
*Progesterone only for Menstruation
What do the Tanner Stages judge based off of?
Hair distribution and quality
Breast and Areola development (females)
Tanner Stage 1 girls or boys
Preadolescent
no pubic hair
Tanner Stage 3 girls
Breast enlargement with no Areola/Papilla mound
Pubic hair fills out but is coarse
Tanner Stage 3 boys
Darker, coarser, curlier pubic hair spreading across pubis
Penis and scrotum enlarging in length
Tanner Stage 5 girls
Breasts reach final adult size
Areola returns to contour of surrounding breast
Projecting central papilla
Adult pubic hair distribution, covering pubis and medial thighs
Tanner Stage 5 boys
Adult-like penis and scrotum in size and shape
Pubic hair coarse and full - inverted triangle
Onset of secondary sexual characteristics EARLY; usually before the age of 7
Precocious Puberty
Absence of secondary sexual characteristics and menarche by around age 15; never had a period
Primary Amenorrhea
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
McCune-Albright Syndrome
Mutation responsible for McCune-Albright Syndrome
GNAS1 (G protein constitutive activated)
McCune-Albright Syndrome is (sporadic/inherited)
Sporadic
Treatment for McCune-Albright Syndrome (G protein activating mutation)
Aromatase inhibitors (girls) (Letrozole, Anastrozole) Bisphosphonates (bone lesions)
Examples of Aromatase inhibitors for girls with McCune-Albright Syndrome
Letrozole
Anastrozole
Precocious puberty is seen more commonly in (males/females)
Females (5:1 ratio)
Causes of Precocious Puberty are usually…
Idiopathic (especially in females, ~75%)
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
Turner Syndrome
Turner Syndrome is (sporadic/inherited)
Sporadic (meiotic error)
Associated anomalies in Turner Syndrome
Bicuspid Aortic valve Coarctation of the Aorta MVP Aortic Aneurysm Hashimotos Renal anomalies
Treatments for Turner’s Syndrome
GH (for height) Hormone replacement (bones, breast, etc.) Egg donation/adoption (gonad dysgenesis)
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
Androgen Insensitivity Syndrome
Inheritance of Androgen Insensitivity Syndrome
X-linked recessive (thus, seen more so in males)
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
Mullerian Agenesis
Inheritance of Mullerian Agenesis
AD with incomplete penetrance
Treatments for Mullerian Agenesis
Vaginal surgery
Uterine transplant
IVF
What are the two types of Primary Amenorrhea that have normal secondary female characteristics but NO UTERUS
Androgen Insensitivity Syndrome (XY) Mullerian Agenesis (XX)
Difference between Androgen Sensitivity Syndrome and Mullerian Agenesis (both primary amenorrhea without uterus)
Androgen Insensitivity Syndrome: XY
Mullerian Agensis: XX
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
Kallman Syndrome
Common gene mutated in Kallman Syndrome
KAL1 gene (controls GnRH neuron migration)
Treatment for Kallman Syndrome (GnRH deficiency)
Hormone Replacement (estrogen + progestin) FSH (for conception)
Most common cause of Delayed Puberty
Hypergonadotropic Hypogonadism (high GnRH) (Turner Syndrome or Ovarian Failure)
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)
5a-Reductase Deficiency
Which hormone during male development is important for suppressing the development of Female internal genitalia
AMH
Which hormone is important for Menstruation
Progesterone
