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Lecture

Congenital Adrenal Hyperplasia

In course

BIO-450: Molecular endocrinology: health and environment

We will define homeostasis, principles of hormone action and the molecular mechanisms underlying them to illustrate the complexities of physiological regulation. Human interactions with the environment, pertinent public health issues and their causes and p ...

Description

This lecture explores Congenital Adrenal Hyperplasia (CAH), a genetic disorder affecting the adrenal glands, causing hormonal imbalances with severe health consequences. The deficiency in 21 hydroxylase enzyme leads to salt wasting, stress response issues, and fertility problems.

Instructor

Cathrin Brisken

Cathrin Brisken, MD, PhD, is Associate Professor of Life Sciences at the Swiss Federal Institute of Technology Lausanne (EPFL). Dr. Brisken is internationally recognized for her work on endocrine control of mammary gland development and breast carcinogenesis. Dr. Brisken received her MD and her PhD degree in Biophysics from the Georg August University of Göttingen, Germany. She completed her postdoctoral work in cancer biology with Dr. R.A. Weinberg at the Whitehead Institute of Biomedical Research in Cambridge, MA, USA. She previously held appointments at the Cancer Center of the Massachusetts General Hospital, Harvard Medical School, Boston and the Swiss Institute for Experimental Cancer Research (ISREC). Research in Dr. Brisken’s laboratory focuses on the cellular and molecular underpinnings of estrogen and progesterone receptor signaling in the breast and the respective roles of these hormones and hormonally active compounds in carcinogenesis. The aim is to understand how recurrent exposures to endogenous and exogenous hormones contribute to breast carcinogenesis in order to better prevent and treat the disease. The laboratory has pioneered in vivo approaches to genetically dissect the role of the reproductive hormones in driving mouse mammary gland development and shown how they control intercellular communication. Dr. Brisken’s group has developed ex vivo and humanized mouse models using patient samples to study hormone action in human tissues in normal settings and during disease progression. Dr. Brisken is member of the International Breast Cancer Study Group (IBCSG) Biological Protocol Working Group. She served as Dean of EPFL Doctoral School (more than 2000 PhD students in 18 PhD programs), as member of the Hinterzartener Kreis, the oncology think-tank associated with the German Science Foundation, and numerous Swiss, European, and AACR committees. She co-founded the International Cancer Prevention Institute.

Official source

Ontological neighbourhood

Health sciences

Endocrinology: Topics in endocrinology

Related concepts (32)

Adrenal insufficiency

Adrenal insufficiency is a condition in which the adrenal glands do not produce adequate amounts of steroid hormones. The adrenal glands, also referred to as adrenal cortex normally secretes glucocorticoids (primarily cortisol), mineralocorticoids (primarily aldosterone), and androgens. These hormones are important in regulating blood pressure, electrolytes, and metabolism as a whole. Deficiency of these hormones leads to symptoms ranging from abdominal pain, vomiting, muscle weakness and fatigue, low blood pressure, depression, mood and personality changes (in mild cases) to organ failure and shock (in severe cases).

Adrenal gland

The adrenal glands (also known as suprarenal glands) are endocrine glands that produce a variety of hormones including adrenaline and the steroids aldosterone and cortisol. They are found above the kidneys. Each gland has an outer cortex which produces steroid hormones and an inner medulla. The adrenal cortex itself is divided into three main zones: the zona glomerulosa, the zona fasciculata and the zona reticularis. The adrenal cortex produces three main types of steroid hormones: mineralocorticoids, glucocorticoids, and androgens.

Cortisol

Cortisol is a steroid hormone, in the glucocorticoid class of hormones. When used as a medication, it is known as hydrocortisone. It is produced in many animals, mainly by the zona fasciculata of the adrenal cortex in the adrenal gland. It is produced in other tissues in lower quantities. It is released with a diurnal cycle and its release is increased in response to stress and low blood-glucose concentration. It functions to increase blood sugar through gluconeogenesis, to suppress the immune system, and to aid in the metabolism of fat, protein, and carbohydrates.

Testosterone

Testosterone is the primary male sex hormone and anabolic steroid in males. In humans, testosterone plays a key role in the development of male reproductive tissues such as testes and prostate, as well as promoting secondary sexual characteristics such as increased muscle and bone mass, and the growth of body hair. It is associated with increased sex drive, the inclination to impress partners and other courting behaviors.

Genetic disorder

A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a de novo mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance).

Related lectures (33)

Stress Response: Hormones Impact

Details how the brain triggers a fight or flight response through hormone release.

Adrenal Glands: Anatomy and Function

Explores the anatomy, blood supply, and histology of adrenal glands, emphasizing venous return pathways and aldosterone detection.

Endocrinology: General Structure and Hormone Production

Explores the anatomy and hormone production of the endocrine system, focusing on T3, T4, aldosterone, glucocorticoids, and adrenaline.

Endocrinology: Systems Physiology II

Explores the production and effects of key hormones in the endocrine system, emphasizing regulatory axes and feedback mechanisms.

Mineralocorticoid and Glucocorticoid Receptors