HBIO 370 FINAL EXAMS QUESTION AND ANSWERS WITH
COMPLETE SOLUTIONS VERIFIED
DSD
differences in sex development. Congenital conditions in which chromosomal,
gonadal, or anatomical sex is atypical. Sex is not binary. It is a spectrum of
phenotypes. It is basically discordance between genetic sex and genitalia.
Male and female reproductive tracts are derived from the same
_______________ tissue.
embryonic
If SRY is present:
- It is expressed in Sertoli cells that surround and support spermatogenic cells of the
testes.
- Leads to the differentiation of Leydig cells (interstitial cells of the testes), that
produce testosterone.
The cells that produce testosterone in the testis are called ________.
Leydig Cells
interstitial cells of the testes
Leydig cells
functions of sertoli cells
To surround and support the spermatogenic cells of testis
In the absence of SRY
The bipotential gonads become ovaries
Which region is never inactivated?
,PAR (Pseudoautosomal Region)
What happens in 6 weeks of embryonic development?
Both sexes have bipotential gonads, mullerian ducts and wollfian ducts.
Mullerian ducts
precursor to the female reproductive tract (oviducts, ovaries, uterus and upper
vagina)
Wollfian ducts
precursors to male reproductive organs (seminal vesicle and vas deferens)
What gives rise to the mullerian and wollfian ducts?
mesonephrons
What parts of the bipotential gonads give rise to what?
1) cortex (outer) : ovaries
2) medulla (inner) : testes
What do wollfian ducts produce that inhibits the development of the mullerian
ducts?
anti mullerian hormone
Chromosomal arrangement of turner syndrome
XO (no barr body), 45
In Turner Syndrome, second copy of which gene is missing?
SHOX gene
SHOX genes are present in which parts of the sex chromosomes?
PAR
A person with Turner is phenotypically
female
general features of Turner
,Physical
- short stature
- webbed neck
- Ovaries degenerate before birth causing primary Amenorrhea
- generally sterile
- often no puberty unless supplemented by hormones
Cognitive
- normal IQ
- developmental delays
- impaired social cognition
amenorrhea
absence of menstruation
Primary: when a girl does not get first period by 15
Secondary: When a woman with periods does not get them for 3 months
Diseases that follow Turner
- Renal defects
- Heart defects
Chromosomal arrangement of Klinefelter
XXY, 47
People with klinefelter are phenotypically
male
General features of people with klinefelter
- antisocial criminal behavior
- slightly low IQ
- learning difficulties
, - 50% testicular atrophy leading to sterility
- high stature
- gynecomastia
- Lack of beard, body hair and even pubic hair
gynecomastia
enlargement of breast tissue in males
Women with XXX common features
- high stature
- low IQ
- learning disabilities
- antisocial behavior
- regular fertility
XY DSD
Varieties of phenotypes at birth: from female typical genitalia to ambiguous to
underdeveloped male genitalia
What gives XY DSD in typical female genitalia and ambiguous genitalia
people?
Amenorrhea at puberty
Major types of XY DSD
1) complete gonadal dysgenesis
2) impaired androgen synthesis
3) impaired androgen sensitivity
Swyer Syndrome
Complete gonadal dysgenesis (XY DSD)
Complete Gonadal Dysgenesis features
COMPLETE SOLUTIONS VERIFIED
DSD
differences in sex development. Congenital conditions in which chromosomal,
gonadal, or anatomical sex is atypical. Sex is not binary. It is a spectrum of
phenotypes. It is basically discordance between genetic sex and genitalia.
Male and female reproductive tracts are derived from the same
_______________ tissue.
embryonic
If SRY is present:
- It is expressed in Sertoli cells that surround and support spermatogenic cells of the
testes.
- Leads to the differentiation of Leydig cells (interstitial cells of the testes), that
produce testosterone.
The cells that produce testosterone in the testis are called ________.
Leydig Cells
interstitial cells of the testes
Leydig cells
functions of sertoli cells
To surround and support the spermatogenic cells of testis
In the absence of SRY
The bipotential gonads become ovaries
Which region is never inactivated?
,PAR (Pseudoautosomal Region)
What happens in 6 weeks of embryonic development?
Both sexes have bipotential gonads, mullerian ducts and wollfian ducts.
Mullerian ducts
precursor to the female reproductive tract (oviducts, ovaries, uterus and upper
vagina)
Wollfian ducts
precursors to male reproductive organs (seminal vesicle and vas deferens)
What gives rise to the mullerian and wollfian ducts?
mesonephrons
What parts of the bipotential gonads give rise to what?
1) cortex (outer) : ovaries
2) medulla (inner) : testes
What do wollfian ducts produce that inhibits the development of the mullerian
ducts?
anti mullerian hormone
Chromosomal arrangement of turner syndrome
XO (no barr body), 45
In Turner Syndrome, second copy of which gene is missing?
SHOX gene
SHOX genes are present in which parts of the sex chromosomes?
PAR
A person with Turner is phenotypically
female
general features of Turner
,Physical
- short stature
- webbed neck
- Ovaries degenerate before birth causing primary Amenorrhea
- generally sterile
- often no puberty unless supplemented by hormones
Cognitive
- normal IQ
- developmental delays
- impaired social cognition
amenorrhea
absence of menstruation
Primary: when a girl does not get first period by 15
Secondary: When a woman with periods does not get them for 3 months
Diseases that follow Turner
- Renal defects
- Heart defects
Chromosomal arrangement of Klinefelter
XXY, 47
People with klinefelter are phenotypically
male
General features of people with klinefelter
- antisocial criminal behavior
- slightly low IQ
- learning difficulties
, - 50% testicular atrophy leading to sterility
- high stature
- gynecomastia
- Lack of beard, body hair and even pubic hair
gynecomastia
enlargement of breast tissue in males
Women with XXX common features
- high stature
- low IQ
- learning disabilities
- antisocial behavior
- regular fertility
XY DSD
Varieties of phenotypes at birth: from female typical genitalia to ambiguous to
underdeveloped male genitalia
What gives XY DSD in typical female genitalia and ambiguous genitalia
people?
Amenorrhea at puberty
Major types of XY DSD
1) complete gonadal dysgenesis
2) impaired androgen synthesis
3) impaired androgen sensitivity
Swyer Syndrome
Complete gonadal dysgenesis (XY DSD)
Complete Gonadal Dysgenesis features
