Physiology of sex II Flashcards
what is precocious puberty and what does it result in and how is it treated
it is the development of secondary sex characteristics before 8 or 9 years old (developing puberty to early. cells are not ready to take on the bodily changes
- the HPG axis is initiated too early
results in: short height (bones mature too early), social and emotional concerns, and metabolic disorders, insulin resistance
treated with gonadotrophin-releasing hormone agonist (GnRHa) or puberty suppressions
GnRH neurons in precocious puberty
these neurons are fibrin too early and this is why the agonist stops the firing of these neurons to stop the process of puberty
works by overstimulation and it can bind to the same receptors and overstimulating receptors and neurons the gonadotrophin release and this is why puberty stops, the hormones function as normal and puberty continues as normal
gynecomastia what is it, and what does it look like
it is the benign proliferation of the glandular tissue of the male breast (overdevelopment of breast tissue in boys and men)
this can happen at any stage in life but it is common in infancy, adolescence, and in middle-aged to older men
breast tissue develops in way one would not expect
DSD’s what is it?
it is an umbrella term to describe genital conditions
genetic and/or hormonal disorders that lead to differentiated development
typically identified at birth, but some diagnoses are delayed until puberty
aneuploidy, trisomy, monosomy, and sex chromosome aneuploidy (what are they)
- genetic disorder with more of less than 46 chromosomes
- not general to sex development unless it’s sex specific
- 47 chromosome (one pair had three chromosomes)
- trisomy 21 is an extra chromosome in the 21st position (down syndrome) - 45 chromosomes (one pair has a single chromosome)
- genetic disorder with more or less then two sex chromosome
kleinfelter syndrome (47XXY)
results in primary testicular failure, infertility; undiagnosed in childhood; tall stature
- 1:750 live births or 1:500 male birth
trisomy - follow the male pathway because of the Y chromosome (has testicular development but not fully b/c of the interference with the X)
testes develop but not functional
turner syndrome (45, X0)
results in primary ovarian failure, hypergonadotropic hypogonadism, no pubertal development, infertility; short stature
- identified at birth
4:10,000 births
monosomy - uterus does develop but it is not functional
would not develop breast or have a menstrual cycle, physically would not have the same growth patterns and they do not physically look like an adult
- usually take estrogen injections or other hormonal treatments to treat height and other small aspects of developments
trisomy X (47, XXX)
it is rarely clinically identified. associated with mild learning difficulties, tall stature
1:1000 births
trisomy
47, XYY
this is associated with autistic traits of impulsivity and neuro developmental disorders
1:100 male live births
trisomy
48, XXYY
this has some similarities to KS tall stature, associated with learning difficulties
1:20,000 live births
mini-puberty DSD (cryptorchidism vs. anorchia)
cryptorchidism: failure to descend for the testes (ORC, ORCH is related to the testes) - have associated tissues they just haven’t descended
anorchia: don’t have testes at all - have not at all been developed (tissues have developed but no testes are present)
mini-puberty DSD (congenital hypogonadotrophic hypogonadism)
congenital (present from birth)
absence of GnHR secretion - no gonadotropins because of the releasing hormone has not been secreted
characterized by delay of puberty and infertility - no testosterone or estrogen secreted and eggs and sperm do not develop
CAH (congenital adrenal hyperplasia)
it is a genetic disorder that causes overproduction of androgens and failure to make cortisol in the adrenal glands
affects both males and females (inXX individuals, high levels of androgens cause genital masculinization (larger clitoris, fused labia - used more like as a scrotom)
may be initially assigned male at birth (AMAB) because genitals look masculine
the high levels of androgens interfere with the typical female pathway
CAIS OR AIS (androgen insensitivity syndrome)
it is the most common 46,XX DSD
insensitivity to circulating androgen due to mutation in androgen receptors
external genitalia is unambiguously female, and individuals are typically assigned female at birth
CAIS is often not diagnosed until adolescence due to amenorrhea (not getting a period of developing eggs)
women with CAIS (46,XY)
can produce androgens but the body is unable to receive it. they have the SRY gene however there isn’t my androgen feedback to continue done the male pathway, so they are assigned female
5a reductase deficiency
it converts testosterone into DHT
develop slightly ambiguous or more female-typical genitalia
masculine secondary sex characteristics develop at puberty
