Workbook Questions Flashcards
Define phenotype
The observable physical characteristics of an individual as determined by their genes.
Should the external genitalia be ambiguous at birth, suggest what types of investigations could be carried out to determine sex
Information on karyotype, gonadal sex, hormonal tests, and anatomy
(e.g., palpation of gonads, length and diameter of any phallus, position of urethral meatus,
degree of labio-scrotal fold fusion, presence of vagina/pouch/urogenital sinus) (including ultrasound study).
Why are germ cells separated from somatic cells so early in development?
Germ cells need to remain undifferentiated and protected from influences arising during development of the rest of the body
Which tissue forms the matrix of the gonads into which
the primordial germ cells migrate.
Somatic mesenchymal tissue
An individual has a genotype of XXY. Will they have ovaries or testis? Explain your answer.
Testis
Y chromosome determines gonadal sex
Which gene on the short arm of the Y chromosome determines formation of the testes?
SRY gene (sex determining region of Y gene) also called TDF gene (testis determining factor)
In Turner’s syndrome (45,XO), the ovaries develop normally until the15th week of gestation, but then the ova begin to degenerate and disappear such that at birth the ovaries are mere streaks. Sometimes, the diagnosis will only occur at puberty. What
will be the presenting signs at puberty?
Primary amenorrhoea (failure to menstruate for the first time).
Failure of secondary sexual characteristics such as poor breast development as 2° sexual characteristics are dependent on ovarian hormones.
Also short stature.
Diagnosis is more usually made earlier if to peripheral lymphodema, redundant neck skin
and congenital heart disease are present.
Predict the gonads in an individual with a sex chromosome mosaic of XY, XX (or XO) cells?
Both ovarian and testicular tissue is present (sometimes in one gonad); this is true/primary hermaphroditism.
If, experimentally, the ovaries are removed from a fetus (castration) which internal genitalia develop?
Female
Which hormones prevent the spontaneous development of the female genitalia in the male and from which cells are they secreted?
Interstitial cells of Leydig in the testes secrete androgens, principally testosterone, from 9 weeks gestation.
Sertoli cells lie within the walls of the seminiferous tubules and secrete MIH (Müllerian inhibitory hormone; MIS Müllerian inhibitory substance).
What structures do the Müllerian ducts develop into?
uterine tubes
uterus
cervix
(upper vagina)
Which structures do the Wolffian ducts develop into?
epididymis
vas deferens
seminal vesicles
The prostate develops from the urogenital sinus in the male (under the influence of testosterone), but what does the urogenital sinus form in the female?
Lower part of the vagina
What do the following precursors develop into in the male & female respectively?
labioscrotal swelling
urethral folds
Male:
Labioscrotal swelling = scrotum
Urethral folds = ventral aspect of shaft of penis, incl spongy urethra
Female:
Labioscrotal swelling = labia majora
Urethral folds = labia minora
what is the homologous structure to the male glans penis in the female (both derived from the genital tubercle)?
Clitoris
Consider an individual with genotype XY, testicular development and normal secretion of testosterone and MIH. However, the fetal genitalia is insensitive to testosterone or DHT. Predict the consequences to
Wolffian ducts:
External genitalia:
Müllerian ducts:
Hence, summarize you findings with regards to internal and external genitalia.
Wolffian ducts: regress (these are androgen dependent)
External genitalia: female
Müllerian ducts: regress (since MIH secreted from testes)
The phenotype is female as labia, clitoris and vagina are present but no other internal
genitalia but remember the genotype is male. (testicular feminisation)
consider a female fetus (XX), who has excessive secretion of androgens from the adrenal glands.
What would be the affect on the following:
Wolffian ducts:
External genitalia:
Müllerian ducts:
Summarize your findings with regards to internal and external genitalia:
Wolffian ducts: promoted by the presence of the androgens
External genitalia: masculinised to a variable extent, since androgens cause the urethral fold to fuse
Müllerian ducts: present (as no MIH secreted)
External appearance male but genetically female with internal genitalia of both sexes.
What would occur in a male (XY) with low levels of MIH or resistance to MIH?
Where will you find the testes in such an individual & why
The presence of testicular testosterone will promotes male external genitalia and Wolffian ducts, but the Müllerian ducts are also retained. Hence, genetically and gonadally male but with internal genitalia of both sexes.
In the abdomen. They cannot descend. Failure to fully descend can be caused by mechanical obstruction by fibrous adhesions, shortened spermatic cord and narrowing of inguinal canal.
True or false:
Germ cells arise 3 weeks after conception
True
True or false:
Germ cells are haploid
False
True or false:
The para-mesonephric duct gives rise to the vas deferens
False
True or false:
The mesonephric duct is supported by MIH
False
What connects the seminiferous tubules to the epididymis.
Rete testis
True or false:
The vas deferens is c35 cm long in the adult human
False
Approx 24cm