Pheochromocytoma

       
        Neural crest-derived chromaffin cells that secrete norepinephrine and epinephrine.

       Clinical findings:

• headache
• diaphoresis
• palpitation
• severe hypertension
• tremor
• nausea
• weakness
• anxiety
• epigastic pain
• constipation
• weight loss
• fever
• pallor
• neurofibromas
• Café au lait spots.

        Laboratory findings:

• hyperglycemia
• hypercalcemia
• erythrocytosis

 

Coma protocol

Glucose, thiamine, naloxone

Steroidogenesis

3-Beta-Hydroxysteroid Dehydrogenase Deficiency

• low glucocorticoids
• low mineralocorticoids
• high DHEA
• Females: clitoromegaly and labial fusion, acne, premature pubarche, advanced linear and skeletal growth, hirsutism, polycystic ovaries.
• Males: newborn male are  incompletely masculinized, may have hypospadias, ambiguous genitalia, poor virilization, gynecomastia.
• hypoNa, hypovolemia.

CAH

Congenitial Adrenal Hyperplasia

STEROIDOGENIC PATHWAY

 

 

These group of the diseases encompasses several autosomal-recessive disorders with deficiency of one of the enzymes involved in synthesis of cortisol, aldosterone or both of them and clinical characteristic will be dependent on the degree of the deficiency of cortisol or aldosterone.

 

another good table I found on Medscape resource:

 

Enzymes and corresponding genes:

2 copies of a bad gene are required for the disorder to occur.

 

 

Clinical findings in males:

• near total 21-hydroxylase deficiency: neonates in 1-4 weeks  have failure to thrive, vomiting, dehydration, hypotension, hypoNa, hyperK, shock: classic salt-losing syndrome
• in male-infants near total 21-hydroxylase deficiency  will be diagnosed as a gastroenteritis (by mistake) or even pylorostenosis
• males with 17 - hydroxylase deficiency or 3 - beta-hydroxysteroid deficiency will have ambiguous genitalia or female genitalia because of insufficient testosterone production in the first trimester of fetal life.

Clinical findings in females:

• ambiguous genitalia at birth due to excess of adrenal androgen in utero
• mild form of 21-hydroxylase deficiency is usually diagnosed later in life because of precocious pubic hair, clitoromegaly, accelerated skeletal growth
• easy form of 21-hydroxylase deficiency may be presented in adolescence or adulthood with oligomenorrhea, hirsutism, infertility
• females with 17 - hydroxylase deficiency are females phenotypically but they do not develop breast or menarche in adolescence because of inadequate estradiol secretion.

 

 

 

Primary hyperaldosteronism = Conn syndrome

There are several factors that can correlate with the hypokalemia together with the primary hyperaldosteronism:

1. increased secretion of aldosterone (increased renal K wasting)
2. sufficient intravascular volume (facilitation of sufficient water delivery to the distal convoluted tubule & collecting duct to facilitate K loss )
3. adequate K dietary intake (this increases total body K, renal Na delivery, increasing renal K loss.)

Physiologic and, thus, normal regulation of aldosterone secretion is mediated by renin, serum K, serum Na, intravascular volume, corticotropin.

Morbidity & mortality in Conn syndrome are primarily related to level of hypokalemia (can causes life-threatened arrhythmia) and hypertension.

Primary Hyperaldosteronism

=

autonomous aldosterone production

+

low levels of plasma renin

+

moderately expanded IntraVascular & ExtraVascular fluid volumes

  

Causes of Primary Hyperaldosteronism:

• APA - High aldosterone, low PRA
• IHA - Responds to posture (bilateral adrenal hyperplasia)
• Primary adrenal hyperplasia - Responds to posture (unilateral disease)
• FH-I (GRA) - Sustained suppression of aldosterone (< 4 ng/dL) with dexamethasone
• FH-II/FH-III - Familial (probably autosomal dominant)

 
Causes of conditions that mimic aldosterone excess include the following:

• Congenital adrenal hyperplasia (11β-hydroxylase deficiency and 17α-hydroxlyase deficiency) - Low aldosterone, low PRA, elevated steroid intermediates
• Primary glucocorticoid resistance - High glucocorticoid secretion unsuppressed by dexamethasone
• Deoxycorticosterone-secreting tumors - Elevated deoxycorticosterone levels
• Syndrome of apparent mineralocorticoid excess
• Liddle syndrome
• Licorice ingestion
• Carbenoxolone

 

 

 

 

 

Clinical picture:

Usually these patients don't have distinctive clinical findings, most common findings:

• hypertension, especially diastolic
• abdominal distention
• weakness
• different findings, which from hypertension: carotid & bruits, hypertensive encephalopathy, cardiac failure, hypertensive retinal changes
• fatigue
• polyuria
• polydipsia
• headaches.

Labs:

• hypo K
• low renin
• metabolic alkalosis
• hyper Na
• failure to suppress aldosterone with the sault loading

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Diff diagnosis in dysphagia

Hepatitis B

Membranous glomerulonephritis

A & B - segmental sclerosis and pinholes along the bacterial basement me brain.(light microscopy).
C & D - granular IgG and C3 along capillary wall. (Immunofluorescence)
D - subepithelial electron-dense deposits & basement me brain spikes, separating the deposits. (Electron microscopy)

Nephrotic syndrome

When this is a lot of proteins in the urine, patient develop Nephrotic syndrome:
- proteinuria > 3 g per day
- hypoalbuminemia
- peripheral edema
- hypercoagulobility
- hyperlipidemia
Most common cause of nephrotic syndrome worldwide is minimal change disease

Minimal change disease

Membranous nephopathy