Sexual Development Flashcards
How is Turner’s syndrome characterized?
45, XO
Short Stature and webbed neck.
3 CVS 2 Eye abnormalities 2 Ear 2 Neck 2 Learning
46,X,i(Xq) would give rise to what disease?
Turner’s.
i(Xq) means the second X chromosomes has two long arms and is not fully functional
How is Kleinfelters classified?
47XXY Tall Hypogonadism Infertile Girly Man
What are the hallmarks of Jacobs Syndrome?
47 XYY Learning disabilities Behavioral difficulties Tall Autism
What generally determines gonadal sex?
Chromosomes- XX or XY SRY gene
What determines secondary sex characteristics?
Gonadal development
During Male development, what major events occur in weeks 7 and 8?
7-Differentiation of Sertoli and Leydig cells
8-Leydig produces Testosterone
Sertoli produces AMH
Sex cords differentiate into the spermatic track.
During female development, what major events occur in weeks 7 and 8?
Primitive sex cords regress and cortical cords form –> follicular cells
What is the SRY and SOX9 gene responsible for?
Producing AMH
What transcription factor is repsonsible for ovary differentiation?
WNT4
A mutation in the DHH gene could result in:
Increased SOX9
Why do XY individuals with Androgen Insensitivity often have female genitalia
Dihydrotestosterone cannot bind receptor. Thus penis, scrotum and urethral opening are not present.
How can you distinguish between 5-alpha-reductase deficiency and AIS?
At puberty, 5AR men will show increased virilization.
A mutation in which gene causes Denys-Drash and Frasier syndromes?
WT1
Kidney problems
Sex reversal
WT1 is a transcription factor for SRY gene
What is the halmark of Congenital Adrenal Hyperplasia?
Salt wasting early in life
21 hydroxylase deficiency
46 XX sexual disorder
