Endocrine Diseases

This is an example of hyper pigmentation associated with Addison's disease. This is caused by high levels of POMC- an ACTH precursor which also makes alpha MSH (which causes the hyper pigmentation) You would also expect and Addison's suffer to be hypotensive, hyponatremic and hyperkalemic.

This is a symptom of what disease? What causes this symptom What are some other symptoms you would expect to find in this person?

If you have destruction of the adrenal glands you will get an upregulation of ACTH. The precursor molecule is POMC which also leads to the creation of Alpha MSH. Alpha MSH is responsible for the hyper pigmentation and loss of appetite that happens in Addison's disease.

What aspects of Addison's disease are explained by this image?

Pheochromocytoma Think the 5 p's of episodic hyperadrenergism (symptoms occur in spells) P - Pressure (increased BP) P - Pain (headache) P - Perspiration P - Palpitations (tachycardia) P - Pallor Associated with von Hippel-Lindau disease, MEN 2A and 2B

What can you see on this MRI? What symptoms might the patient present with? What are some associations that this disease has with other diseases?

Excess GH in children --> increased linear bone growth You would get acromegaly if the excess GH started after epiphyseal plate closure. Cardiac failure is the most common cause of death

What condition does this person have? What condition would you get if the same hormonal imbalance began in adulthood. What is the most common cause of death

Pretibial myxedema Rare complication of Grave's Disease

What condition is this and what endocrine disorder is it associated with?

Waterhouse - Friedrichsen syndrome - Adrenal gland failure due to bleeding into the adrenal glands, caused by severe bacterial (or rarely viral) infection (most commonly the meningococcus Neisseria meningitidis). - This can also be caused by HITTS (Heparin induced thrombotic thrombocytopenic syndrome)

What condition is this infant suffering from? (think infectious disease and adrenal gland) What non infectious disease process can cause this?

Acromegaly - Caused by excess GH in adults Diagnosis - Increased serum IGF-1 - Failure to suppress serum GH following oral glucose tolerance test - Look for pituitary mass on MRI

What condition is this man suffering from? What causes this condition? How would you diagnose it?

Galactorrhea Some SSRIs and antipsychotics can cause this (notably risperadone)

What condition is this? What are some drugs that cause this?

This is exophthalmos caused by Grave's disease.

What condition is this? What is the underlying pathology

This is an example of Kallman's Syndrome. It has been associated with a variety of genetic defects. Treatment is with testosterone (Virilisaton) and/or gonadotrophs (to induce spermatogenesis and fertility)

What could cause this phenotype (not Klinefelters)? What is the genetic cause? Is there a treatment?

Cushing's Disease

What disease does this progression of photos suggest?

Kallman's Syndrome. Treated with androgen replacement therapy for 2-3 years.

What disorder does this person have? What treatment would cause this type of response over the course of 2-3 years?

Fragile X Syndrome

What disorder is this?

Addison's disease

What does this child have?

Cretinism (congenital hypothyroidism) Think of the 6Ps P - Pot-bellied P - Pale P - Puffy faced child P - Protruding umbilicus P - Protuberant Tongue P - Poor brain development

What does this child have? What are some symptoms of this disease?

Turner's Syndrome XO karyotype Short stature, ovarian dysgenesis, shield chest, bicuspid aortic valve, lymphatic defects (results in webbed neck, lymphedema in hands and feet), Low set ears and hairline, Ptosis Partial or absent secondary sexual development Primary amenorrhoea Congenital cardiac valve lesions Absent or horseshoe kidney Conduction deafness Scoliosis Learning difficulties

What does this person have? What causes it and what are some common presentations?

This progression suggests acromegaly. Features include: large tongue, deep voice, large hands and feet, coarse facial features., impaired glucose tolerance.

What does this progression of pictures of the same lady suggest? What are some features of this disease?

Rickets (vit d deficiency) CA2+ - Decreased PO4 3- - Decreased ALP - Increased PTH - Increased

What is causing the 'windswept appearance' of this child's legs? What lab values would you expect for this child in terms of serum Ca2+, PO4 3-, ALP, PTH?

Pituitary Dwarfism - You can tell it from achondroplasia (the most common cause of dwarfism) by the fact that the people are normally proportioned. Someone with achondroplasia will have shorten limb and a proportionately larger head than someone with pituitary dwarfism

What is the cause of these people's short stature? How can you tell it from the most common cause of dwarfism?

Klinefelters Syndrome XXY Small testicles Tall stature Eunuchoid (long limbed) Gynaecomastia Failure to enter puberty Scoliosis Learning difficulties In less severe forms infertility may be the first presentation (azoospermia)

What is this person suffering from? What genetic findings would you look for? What are some problems associated with this disorder?

Acanthosis Nigricans - found most commonly on neck or in axilla. Associated with hyperinsulinemia (diabetes, obesity, cushing's syndrome) and visceral malignancy

What is this skin condition and what endocrine disorders can it be associated with?

small Endometriotic deposits

What is this?

Hyperandrogenism

What might this lady be suffering from?

Addison's disease from adrenal tuberculosis infection. Symptoms may include: Muscle weakness and fatigue. Weight loss and decreased appetite. Darkening of your skin (hyperpigmentation) Low blood pressure, even fainting. Salt craving.

What symptom would result from the condition shown?

Polycystic Ovarian Syndrome

What syndrome could explain the following clinical presentation show?

Cushing's syndrome - Truncal obesity - Florid abdominal striae - Moon facies - Weight gain - Buffalo hump - Hyperglycemia - Skin changes (thinning, striae) - Osteoporosis - Amenorrhea - Immune suppression

What syndrome could this be? What are the most common signs?

22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome Think CATCH 22 C - Cleft palate A - Abnormal facies T - Thymic aplasia --> T cell deficiency C - Cardic Defects H - Hypocalcemia secondary to parathyroid aplasia 22 - Microdeletion at chromosome 22q11

What syndrome does this child have? What are some common presentations?

Prader Willi Syndrome - Hyperphagia, obesity, intellectual disability, hypogonadism and hypotonia

What syndrome does this child have? What are some symptoms?

Pseudohypoparathyroidism

What would cause this distinctive hand shape?

Complete Androgen Insensitivity Syndrome 46XY Tall stature Female phenotype Little body hair Inguinal gonads (testes) Lower 1/3 vagina only

What would cause this phenotype in someone who had a XY karyotype?

Hyper pigmentation associated with Addison's disease.

What would you think if someone presented with skin like this but no sun exposure