Endocrine Disorders Flashcards
Name two causes of growth failure
Growth hormone deficiency and congenital adrenal hyperplasia
Describe growth hormone deficiency
Pituitary gland dysfunction leads to insufficient somatotropin (GH) production which ordinarily stimulates growth and cell reproduction
Describe congenital adrenal hyperplasia
There is insufficient cortisol production causing low cortisol levels which prevents negative feedback of ACTH release so the adrenal glands are constantly stimulated leading to an overgrowth (hyperplasia). This leads to precursors in the adrenal glands ‘leaking out’ such as testosterone. This can lead to hypogonadism.
What is the genetic cause of congenital adrenal hyperplasia?
Autosomal recessive disease
What three things does congenital adrenal hyperplasia affect?
Glucocorticoids, sex steroids and mineralocorticoids
What is the genetic profile of Turner syndrome?
45, X
What are the consequences of Turner syndrome?
Affects females; short and webbed neck, low-set ears, short stature, swollen hands and feet. Tend to be infertile
What is the genetic profile of Klinfelter syndrome?
47, XXY
Who gets Klinefelter syndrome?
Males with two or more X chromosomes
What are the consequences of Klinefelter syndrome?
Sterility. Tall, poor coordination, less body hair, hypogonadism, breast growth.
What is the pathogenesis of Kallman syndrome?
Failure of hypothalamus to release GnRH; due to GnRH-releasing neurones not migrating correctly during embryonic development
What are the consequences of Kallman syndrome?
A rare genetic condition characterised by the failure to start or complete puberty alongside anosmia/hyposmia and infertility.
What is androgen insensitivity syndrome?
An intersex condition that results in the inability of the cell to respond to androgens; prevents masculinisation of the male genitalia in the foetus.
This doesn’t impact women largely.
