Diabetes insipidus is the condition characterized by polydipsia ( excessive thirst ) and polyuria ( excessive urine volume) due to decreased secretion or resistance to the antidiuretic hormone (ADH) .

What are the types of Diabetes Insipidus ?

Diabetes insipidus is divided into central and nephrogenic diabetes insipidus . Central DI is due to lack of ADH secretion where nephrogenic diabetes insipidus is caused by a failure of the kidneys to respond to antidiuretic hormone.

What causes the Diabetes Insipidus ?

Central DI is caused by Pituitary or hypothalamus gland destruction which includes :

1. Surgery
2. Tumor
3. Meningitis
4. Inflammation
5. Head injury

Nephrogenic DI is caused by:

1. Drugs includes lithium, demeclocycline, amphotericin B
2. Genetic disorder
3. Hypercalcemia ( high levels of calcium in the body)
4. Polycystic kidney disease

Other causes of diabetes insipidus includes :

1. Lung cancer , Leukemia, Lymphoma
2. Histiocytosis X, anorexia nervosa, sarcoidosis
3. Hypoxic encephalopathy
4. Aneurysms
5. Artriovenous malformation

What are the signs and symptoms of Diabetes insipidus ?

1. Polydipsia ( excessive thirst)
2. Polyuria ( excessive urination , 2.5 liters to 15 liter of urination per day )
3. Nocturia ( urinary frequency at night )
4. Fever
5. Vomiting
6. Diarrhea
7. Dry skin
8. Cold extremities
9. Crying, growth retardation , irritability , weight loss in infants
10. Anorexia, Enuresis ( Bed wetting) , growth defects in children

How is a Diabetes insipidus diagnosed ?

Diagnosis relies on clinical findings, laboratory test and radiological imaging .

1. Routine urine test: urine specific gravity 1.005 or less and osmolality of urine is less than 200 mOsm/kg .
2. Water deprivation test
3. Radiological imaging includes MRI may show abnormality of pituitary or hypothalamus gland .

“Desmopressin stimulation tests is used to differentiate between the central and nephrogenic diabetes insipidus. “

How is a Diabetes insipidus managed ?

Management depends upon the types of the diabetes insipidus.

Treatment of central DI includes:

1. Balanced salt and water intake
2. Avoid dehydration
3. Desmopressin is the drug of choice with the dose of 5-10 U SC per 3-6 hours.

Treatment of nephrogenic DI includes :

1. Low salt diet
2. Stop medication that causes the nephrogenic DI.
3. Hydrochlorothiazide with the dose of 25-50 mg PO per day.
4. Chlorpropamide, carbamazepine and indomethacin are alternatives of Hydrochlorothiazide to treat DI.

What is the prognosis of Diabetes insipidus ?

Prognosis is excellent .

References:

• http://www.emedicinehealth.com
• http://en.wikipedia.org
• http://www.mayoclinic.com
• http://emedicine.medscape.com
• http://www.medicinenet.com
• http://www.ncbi.nlm.nih.gov
• Harrison’s Principles of Internal Medicine, 17^th edition.
• Davidson’s Principles and Practice of Medicine, 20th Edition

No related posts.

Prolactinoma is a condition in which pituitary adenoma produces too much hormone called prolactin in the body. Prolactinoma is the most common type( 25-30%) of all pituitary tumor .

What is the pathophysiology of Prolactinoma?

Adenoma is due to neoplastic change of pituitary lactotrophs , results in excess production and secretion of hormone prolactin.

What is the signs and symptoms of Prolactinoma?

Signs and symptoms is caused by secondary to the excess hormone production and to the space occupying effect by the tumor .

Symptoms in women :

1. Galactorrhea( Abnormal milk flow form the breast of non pregnant or non breast feeding women)
2. Decreased sexual desire
3. Infertility
4. Irregular menstrual periods ( oligomenorrhea to amenorrhea)
5. Dyspareunia( painful sexual intercourse)
6. Breast tenderness
7. Fracture of bones

Symptoms in Men :

1. Gynecomastia( enlarged breast )
2. Decreased sexual desire
3. Impotence ( Inability of the male to achieve of maintain an erection of sufficient rigidity to perform sexual intercourse successfully)
4. Decreased body hair
5. Small testis

Symptoms due to space occupying lesion :

1. Headache
2. Nausea and vomiting
3. Nasal drainage
4. Visual disturbance
5. Double vision
6. Problems in smelling
7. Lethargy

How is a Prolactinoma diagnosed ?

Diagnosis relies on clinical findings , Laboratory tests and radiological imaging .

1. Laboratory tests shows increased serum prolactin levels with decreased testosterone levels in men . TSH levels is needed to exclude the possibility of an increased prolactin level secondary to increased TRH level.
2. Radiological imaging which includes CT and MRI shows pituitary mass.

How is a Prolactinoma managed?

Medication is usually sufficient in treating prolactinoma but surgery is needed in some cases who have the vision problem.

1. Bromocriptine (BEC) is a choice of drugs in the treatment of prolactionma with the doses of 1.25 mg nighty with food initially and is gradually increased to 2.5 mg two times a day in 1-2 weeks.
2. Carbergloine a long acting dopamine agonist is used for the patients who do not respond to bromocriptine.
3. Surgery is indicated when drug therapy doesn’t work or have the symptoms of mass occupying lesion . Sugery includes Transsphenoidal or Transcranial removal or pituitary tumor.
4. Radiotherapy is usually reserved for those whose prolactinoma that gets worse after both medication and surgery.

What is the prognosis of Prolactinoma ?

Prognosis depends upon the response of medical therapy or surgery.

References:

• http://www.emedicinehealth.com
• http://www.mayoclinic.com
• http://en.wikipedia.org
• http://www.medicinenet.com
• http://www.ncbi.nlm.nih.gov
• Harrison’s Principles of Internal Medicine, 17^th edition.
• Davidson’s Principles and Practice of Medicine, 20th Edition
• Sabiston textbook of surgery 18th edition

No related posts.

Klinefelter syndrome is a genetic condition in which males have an one extra X sex chromosome characterized by male hypogonadism and infertility due to random error during the formation of sperm /egg of error after conception. People with this condition are referred as XXY male or 47 XXY male. The Name Klinefelter syndrome come from the Dr. Harry Klinefelter in 1942 who first described this condition.

What causes the Klinefelter Syndrome?

Klinefelter syndrome is caused when the paired X chromosomes fail to separate in stage I or II of meiosis during the formation of sperm or egg.

What are the signs and symptoms of Klinefelter Syndrome?

1. Infertility
2. Gynecomastia
3. Small penis, small testicles
4. Decreased facial and body hair
5. Fatigue
6. Erectile dysfunction
7. Decreased Libido( decreased sexual desire)
8. Weakness
9. Language impairment
10. Osteoporosis
11. Behavioral problems
12. Anxiety, depression psychosis
13. Mitral valve prolapse
14. Varicose veins
15. Diabetes mellitus
16. Rheumatoid disease

What are the Differential diagnosis of Klinefelter Syndrome?

• Marfan syndrome
• Hypogonadism
• Fragile X syndrome

How is Klinefelter Syndrome diagnosed?

Diagnosis relies on clinical presentation , laboratory examination .

Laboratory tests includes:

1. Hormones level: Full evaluation of FSH ,LH, estradiol, prolactin, testosterone , cortisol shows abnormal levels of this hormones.
2. Cytogenetic studies( Chromosome studies) :Usually shows XXY Karyotype .

Chromosome analysis confirm the diagnosis .

How is Klinefelter syndrome managed ?

Klinefelter syndrome cant be cured but treatment can help to relives symptoms and signs . Treatment includes:

1. Testosterone Replacement therapy : It should start around the age of 12 years and the dose need to increase .Testosterone can help reduced breast size , increased hair growth, promote strength, more muscular body, increased libido, enlarged penis size , improve behavioral problems and protect from osteoporosis.
2. Physical and speech therapy: Who presents with speech problem and muscle weakness .
3. Intracytoplamic sperm injection (ICIS) can help is some patient who have infertility.
4. Surgery is indicated who have gynecomastia( enlarged male breast ) .

What is the Prognosis of Klinefelter Syndrome?

Life span is usually normal.

References:

• http://www.emedicinehealth.com
• http://www.mayoclinic.com
• http://en.wikipedia.org
• http://www.medicinenet.com

Related posts:

1. Infertility
2. HELLP Syndrome

Hashimoto thyroiditis is the autoimmune chronic inflammation of the thyroid gland leads to an underproduction thyroid hormones (hypothyroidism). This is the most common cause of hypothyroidism. The name Hashimoto is comes form the Japanese doctor Hashimoto Hakaru in 1912.

What is the pathophysiology of Hashimoto thyroiditis?

In Hashimoto thyroiditis auto antibodies are produced, which attack the own thyroid cells leads to chronic inflammation , thyroid destruction and ultimately hypothyroidism is developed.

What are the risk factor of Hashimoto thyroiditis ?

1. Pregnancy
2. Turners syndrome
3. Klinefelters’s syndorem
4. History of diabetes
5. Infection

What are the symptoms and signs of Hashimoto thyroiditis?

The symptoms and signs are similar to other hypothyroidism is general , which includes:

1. Fatigue
2. Weight gain despite of decreased appetite
3. Depression
4. Memory loss
5. Cold intolerance
6. Constipation
7. Edema
8. Dry skin
9. Menorrhagia, infertility , loss of libido
10. Puffy face
11. Peritibial nonpitting edema
12. Hair loss
13. Bradycardia
14. Macroglossia
15. Slow speech
16. Thyroid gland is enlarged ,firm and rubbery with out tenderness .(goiter)

How is Hashimoto thyroiditis diagnosed ?

Diagnosis relies on symptoms and signs, laboratory test and radiological imaging.

A) Laboratory tests includes

Complete blood count : WBC specially lymphocyte count is increased .

1. Thyroid function test shows :Increased TSH level with decreased level of T3 and T4.
2. Presence of thyroid autoantibodies typically anti-TPO (thyroid peroxide ) and anti -Tg antibodies .

B) Imaging studies : ultrasound is used to assessing the thyroid size and texture . It is also helped in fine-needle aspiration of the thyroid gland to exclude malignancy.

Histological findings confirm the diagnosis of Hashimoto thyroiditis.

How is Hashimoto thyroiditis managed ?

A) Thyroid hormone replacement drugs such as Levothyroxine usually for lifetime, the doses is adjusted based on hormone level ,which are usually check every 6-12 weeks in first few months and 6-12 months once stable.

B) Some patients need surgical management , indication for surgery :

1. Large goiter with dysphagia, dyspnea, voice hoarseness, stridor.
2. Presence of malignancy
3. Cosmetic propose.

What is the prognosis of Hashimoto thyroiditis?

After treatment prognosis is good.

References:

• http://www.emedicinehealth.com
• http://emedicine.medscape.com
• http://www.mayoclinic.com
• http://en.wikipedia.org
• http://www.medicinenet.com
• Harrison’s Principles of Internal Medicine, 17th edition.

Related posts:

1. Infertility

Sheehan syndrome also know as postpartum hypopituitarism, postpartum panhypopituitarism, postpartum panhypopituitary syndrome, postpartum pituitary necrosis and simmond’s disease is the condition of pituitary insufficiency (hypopituitarism) may occur in a women who have postpartum hemorrhage ( excessive bleeding during childbirth). Generally 800ml or more blood lost is needed to developed sheehan syndrome.

What is the pathophysiology of Sheehan syndrome?

Pituitary gland enlarges(hypertrophy and hyperplasia) during pregnancy .When postpartum hemorrhage occurs excessive blood is lost and drop in blood pressure( hypotension) results is pituitary necrosis due to decreased blood supply to the pituitary gland .

Anterior pituitary hormones includes growth hormone, thyroid stimulation hormone, luteinizing hormone, follicle stimulation hormone , adrenocorticotropic hormone and prolacting are decreased due to pituitary necrosis which is the characteristics of sheehan syndrome.

What are the symptoms and signs of sheehan syndrome?

Symptoms and signs of this syndrome appear after a of months or even years .

Symptoms and signs includes :

1. Absent of breast feeding or difficult with breast feeding
2. Amenorrhea or oligomenorrhea after delivery , decreased libido
3. Weight gain , intolerance of cold ,slowed mental function, constipation
4. Loss of pubic hair ,underarm hair and ever eyebrow.
5. Hypotension
6. Weight loss, fatigue, hypoglycemia
7. Hyponatremia
8. Some patients present with coma

What is the complication of the sheehan syndrome?

Addisonian crises is the most life threatening complication of the sheehan syndrome .

How is sheehan syndrome diagnosed ?

Diagnosis relies on clinical finding, laboratory test and radiological imaging.

Laboratory tests shows ;

1. Decreased levels of TSH, ACTH, FSH, LH , GH and prolacting
2. Decreased levels of T3, T4, cortisol and estradiol in the blood

Imaging includes CT and MRI shows the size of pituitary gland (usually patients has empty sella) and also help to exclude other conditions.

How to managed sheehan syndrome?

Lifelong hormone replacement therapy is needed , which includes;

1. Corticosteroid such as hydrocortisone , prednisone is the first hormone that need to be replaced to prevent Addisonian crises .
2. Levothyroxin( only used after corticosteroid ) increases the thyroid hormone level .
3. Estrogen and progesterone
4. Growth hormone replacement
5. Fluid and electrolyte in hypotensive patients.

What is the prognosis of sheehan syndrome?

With early diagnosis and treatment prognosis is excellent

References:

• http://www.mayoclinic.com
• http://www.nlm.nih.gov
• http://en.wikipedia.org
• http://www.ncbi.nlm.nih.gov
• http://www.cigna.com
• Harrison’s Principles of Internal Medicine, 17th edition.

Related posts:

1. HELLP Syndrome
2. Premenstrual syndrome(PMS)
3. Premature ovarian failure

Graves disease is the most common cause of  hyperthyroidism due to circulationg  Thyroid-stimulating immunoglobulins (TSIs) . Graves disease is named after Robert.J. Graves in 1830.

The symptoms of graves disease are as follows:

Diagnosis relies on patients history ,physical examination , lab tests and radiological imaging .

Laboratory tests shows:

Related posts:

1. Infertility

It is a rare genetic conditions characterized by hypogonadism , anosmia or severe hyposmia caused by gonadotropin-releasing hormone(GnRH) deficiency. Kallmann syndorme is also called hypothalamic hypogonadism, familial hypogonadism. This syndrome was first described in 1944 by Franz Josef Kallmann .The prevalece of Kallaman syndrome is approximatley 1 in 10,000 men.

What is the Pathophysiology of Kallmann syndrome ?

What are the sign and symptoms of Kallmann syndrome?

1. Anosmia or severe hyposmia
2. Decresed Libido
3. Erectile dysfunction
4. Decreased muscle strength
5. Amenorrhea and dysparenunia
6. Infertility
7. Osteoporosis
8. Fatigue, dyspnea, cyanosis, palpitations and syncome
9. Color blindness, paraplegia or epilepsy

How to diagnosed of Kallmann syndorme?
The presence of anosmia with delayed puberty suggest the Kallmann syndrome. In kallmann syndrome there is always decreased testosteron level with low or normal level of FSH and LH.

How to managed Kallmann syndrome?
Kallmann syndorme is managed by administered of deficient hormone ,in Males human chorionic gonadotropin (hCG) or testosterone and females with estrogen and progestins. To induced fertility GnRH is administered by an infusion pump. IF fertilization is not occured by low sperm count on either GnRH or gonadotropin therapy assisted reproductive technologies ,including in vitro fertilization (IVF), zygote intrafallopian transfer (ZIFT), and gamete intrafallopian transfer (GIFT), have been used successfully.

References:

• http://www.emedicinehealth.com
• http://www.mayoclinic.com
• http://www.webmd.com
• http://www.nlm.nih.gov
• http://en.wikipedia.org

Related posts:

1. Premenstrual syndrome(PMS)
2. Infertility

Hypertension (HTN) or high blood pressure is a chronic medical condition in which the blood pressure in the arteries is elevated. It is classified as either primary (essential) or secondary. About 90-95% of cases are termed “primary hypertension”, which refers to high blood pressure for which no medical cause can be found. The remaining 5-10% of cases (Secondary hypertension) is caused by other conditions that affect the kidneys, arteries, heart, or endocrine system.

Persistent hypertension is one of the risk factors for strokes, heart attacks, heart failure and arterial aneurysm, and is a leading cause of chronic kidney failure. Moderate elevation of arterial blood pressure leads to shortened life expectancy. Both dietary and lifestyle changes as well as medicines can improve blood pressure control and decrease the risk of associated health complications.

Classification

Blood pressure is usually classified based on the systolic and diastolic blood pressures. Systolic blood pressure is the blood pressure in vessels during a heartbeat. Diastolic blood pressure is the pressure between heartbeats. A systolic or the diastolic blood pressure measurement higher than the accepted normal values for the age of the individual is classified as prehypertension or hypertension.

Hypertension has several sub-classifications including, hypertension stage I, hypertension stage II, and isolated systolic hypertension. Isolated systolic hypertension refers to elevated systolic pressure with normal diastolic pressure and is common in the elderly.

Signs and symptoms

One of the most dangerous aspects of hypertension is that you may not know that you have it. There are generally no symptoms of high blood pressure, so you usually don’t feel it. In fact, nearly one-third of people who have hypertension don’t know it. The only way to find out if you have high blood pressure is to get your blood pressure checked on a regular basis. This is especially important if you have a close relative who has high blood pressure.

If your blood pressure is extremely high, there may be certain symptoms to look out for, including:

• Severe headache
• Fatigue or confusion
• Vision problems
• Chest pain
• Difficulty breathing
• Irregular heartbeat
• Blood in the urine
• Pounding in your chest, neck, or ears

Prevention

• Weight reduction and regular aerobic exercise
• Reducing dietary sugar intake
• Reducing sodium (salt) in the diet:
• Additional dietary changes beneficial to reducing blood pressure include the DASH diet (dietary approaches to stop hypertension) which is rich in fruits and vegetables and low-fat or fat-free dairy products.
• Discontinuing tobacco use and alcohol consumption has been shown to lower blood pressure.
• Reducing stress.

Treatment

The first line of treatment for hypertension is the same as the recommended preventative lifestyle changes such as the dietary changes, physical exercise, and weight loss, which have all been shown to significantly reduce blood pressure in people with hypertension.

Medication
Commonly used prescription drugs include

• ACE inhibitors such as ramipril
• Angiotensin II receptor antagonists may be used where ACE inhibitors are not tolerated: e.g., candesartan
• Calcium channel blockers such as nifedipine
• Diuretics: e.g. hydrochlorothiazide (aHCTZ).
• Diuretics such a furosemide or low-dosages of spironolactone
• Alpha blockers such as Terazosin Doxazosin have been shown to the increase risk of heart failure, and to be less effective than diuretics.
• Beta blockers such as metoprolol,  once were first line agents, now they are less commonly used because they increase the risk of diabetes.
• Direct renin inhibitors such as aliskiren

References:

1. Medical physiology, Lippincott Williams & Wilkins 3rd edi.
2. Harrison’s Principles of Internal Medicine, 17th edition.
3. Davidson’s Principles and Practice of Medicine, 20th Edition
4. http://en.wikipedia.org

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Felty’s syndrome is potentially serious condition characterized by triad of rheumatoid arthritis, splenomegaly and abnormally low white blood count.

The cause to felty’s syndrome is still unknown .But believed that, some patients with rheumatoid arthritis for a long time developed this condition. Some research show that splenomegaly and low white cell count is due to splenic sequestration and autoimmune coated granulocyte destruction.

What are symptoms of Felty’s syndrome?

Although many patients with Felty’s syndrome are asymptomatic, some develop serious and life-threatening infections secondary to granulocytopenia. Common symptoms are:

1. Painful, stiff, and swollen joints, most commonly in the joints of the hands, feet, and arms
2. mild involvement to severe with deformity and erosion of the joints
3. firm, non-tender spleen
4. Massive splenomegaly
5. splenic rupture, portal hypertension with esophageal varices(few patients)
6. mild hepatomegaly is common
7. Recurrent serious infections likes skin infection, respiratory tract infections and urinary tract infections
8. some get oral ulcers, sinusitis, otitis media, osteomyelitis, and septic arthritis
9. rheumatoid nodules
10. Sjogren’s Syndrome
11. Weight loss
12. Skin pigmentation
13. Leg ulcer mostly occur over the tibias and ankles
14. Pericarditis

How is Felty’s syndrome diagnosed?

Felty’s syndrome is diagnosed by patient’s history, physical examination and lab tests.

Lab tests shows:

1. Low neutrophil
2. Present of anemia with increased reticulocyte count.
3. low palates count
4. High titers of RF.
5. Present of antinuclear antibodies(ANAs)
6. increased erythrocyte sedimentary rate (ESR)

How is Felty’s syndrome treated?

Treatment of Felty’s syndrome is not always required. Immunosuppressive therapy for RA often improves granulocytopenia and splenomegaly. The management of rheumatoid arthritis is managed in the standard fashion like NSAIDs and steroids. If 1^st line treatment failed than Second-line” or “slow-acting” drugs by disease-modified anti-rheumatic drugs like Hydroxychloroquine, Methotrexate, Gold salt is required. Patients with infection required antibacterial, antiviral or antifungal drugs. Splenectomy is recommended only in patients with severe intractable disease who exhibit no improvement with medical therapy and experience recurrent or serious infection.

References:

1. Williams Textbook of Endocrinology, John Stone (Editor)
2. Harrison’s Principles of Internal Medicine, 17th edition.
3. Davidson’s Principles and Practice of Medicine, 20th Edition
4. Harrison’s Rheumatology, Second Edition

Related posts:

1. Sweet’s syndrome
2. HELLP Syndrome

Antiphospholipid syndrome is a condition characterized by blood clots (thrombosis) in both arteries and veins and various other problems, some life-threatening. It is also called as antiphospholipid antibody syndrome, APLS, APLA, Hughes Syndrome or “Sticky Blood.”

Person with this condition may have deep vein thrombosis (DVT) or may also cause blood clots to form in organs like kidney, lungs, heart and brain.

The exact mechanism of Antiphospholipid syndrome is still unknown but believed that it occurs due to the production of autoimmune antibodies against phospholipids, a cell membrane substance. In the antiphospholipid syndrome, antibodies mistakenly attack either phospholipids or proteins in the blood that bind to phospholipids.

What causes the antiphospholipid syndrome?

There are two main classification of this condition:

1. Primary: absent of other autoimmune disorder likes SLE.
2. Secondary: Present of other autoimmune disorder

Other factors associated with developing antiphospholipid antibodies:

1. Infection : syphilis, HIV infection, hepatitis C
2. Medication : hydralazine,  amoxicillin, amoxicillin
3. genetic :

What are the symptoms of Antiphospholipid syndrome?

The symptoms of this syndrome depend on where a clot forms.

1. abdominal pain
2. chronic headache
3. migraines
4. chest pain (due to pulmonary embolism or ischemic heart disease)
5. rash
6. sudden haring loss
7. cognition problem
8. difficulty in breathing
9. signs of miscarriage
10. bleeding diathesis

How Antiphospholipid syndrome diagnosed?

Diagnosis relies on patient’s history, physical examination and lab test, lab test includes present of antibodies to phospholipids in blood, prolonged PTT and present of cardiolipin in antibodies.

How is Antiphospholipid syndrome treated?

Because of having abnormal tendency to form blood clot, treatment is often directed to prevent clot formation. Usually aspirin and warfarin used as anticoagulant .During pregnancy, low molecular weight heparin is used instead of warfarin.

Though anticoagulation therapy during pregnancy may be complicated, the good news is that it usually prevents antiphospholipid syndrome-related miscarriages.

References:

• Diagnostic Hematology, Doyen Nguyen  and  Lawrence Diamond
• Harrison’s Principles of Internal Medicine, 17th edition.
• Davidson’s Principles and Practice of Medicine, 20th Edition
• Sabiston textbook of surgery 18th edition
• Bailey and love, surgery 25th edition

Related posts:

1. HELLP Syndrome
2. Meigs Syndrome

Barraquer-Simons syndrome is a rare childhood diseases characterized by the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the ‘cephalocaudal’ sequence, sparing the lower extremities. It is a rare form of progressive lipodystrophy or partial lipodystrophy of the cephalothoracic type. It is also known as acquired partial lipodystrophy.

The disease is acquired of unknown etiology with onset in childhood and more common in females than the males.

Lipodystrophy is thought to be caused by low C3 serum complement levels and presence of a C3 nephritic factor which activate C3. C3 nephritic factor induces the lysis of adipocytes by secreting adipsin. Lipodystrophy is often associated with systemic lupus erythematosus, dermatomyositis, and membranoproliferative glomerulonephritis.

Patient present with the history of progressive loss of fat, which first involves the face, spreads distally to the neck, arms, and trunk; the lower part of the body is usually spared. On physical examination the face appears cachectic, absent buccal fat pads with prominent zygoma and chin, deeply sunken eyes, numerous wrinkles lying over the cheeks , breast are underdeveloped and no muscular hypertrophy.

A diagnosis of Barraquer-Simons syndrome is based on clinical finding and laboratory examination includes; high triglyceride levels , decreased serum C3 level with normal C1 and C4, high levels of C3NeF (autoantibody) , presence of antinuclear antibody and anti-double-stranded deoxyribonucleic acid (DNA) antibodies and abnormalits of serum creatatine and blood glucose .

There is no known specific drug treatment for the diseases. Symptomatic therapy should be prescribed in progressive lipodystrophy patients. In some patient surgical care (plastic surgery) of face has shown to be effective. Long-term use of the dopamine receptor blocking drug Pimozide is used in some clinical trails.

The prognosis for progressive lipodystrophy is correlated with the renal complications and the onset of renal failure.

References:

1. Williams Textbook of Endocrinology, John Stone (Editor)
2. Harrison’s Principles of Internal Medicine, 17th edition.
3. Davidson’s Principles and Practice of Medicine, 20th Edition
4. Harrison’s Rheumatology, Second Edition

Related posts:

1. Sweet’s syndrome
2. HELLP Syndrome
3. Meigs Syndrome

Growth hormone (GH) is species-specific, and humans do not respond to GH derived from animals. In the past, the only human GH available for treating children who were GH-deficient was very limited mount made from human pituitaries obtained at autopsy, but there was never enough to meet the need. This problem was solved when the gene for human GH was cloned in 1979 and then expressed in bacteria. The production of large amounts of recombinant human GH, with all the activities of the natural substance, was now possible. During the 1980s, careful clinical trials established that recombinant human GH was safe to use in GH-deficient children to promote growth. The hormone was approved for clinical use and is now produced and sold worldwide.

Despite the availability of recombinant GH, the diagnosis of GH deficiency has remained controversial. GH is released in periodic bursts, the greatest of which occur in the early morning hours. Between pulses of secretion, the blood concentration of GH is nearly undetectable by most techniques. For these reasons, a random measure of GH in the blood is not useful for diagnosing GH deficiency. However a random blood sample may be useful to detect GH resistance, a syndrome in which the patient exhibits symptoms of GH deficiency but presents with high GH levels in the blood.

An alternative means of diagnosing GH deficiency is to measure the levels of IGF-1, IGF-2, and the IGF-binding protein 3(IGFBP3) in the blood. The IGFs mediate many of the mitogenic effects of GH on tissues in the body. IGF-1 and IGF-2 bind to IGFBP3 in the blood. IGFBP3 extends the half-life of the IGFs, transports them to target cells, and facilitates their interaction with IGF receptors. GH stimulates the production of all three molecules, which are present in the blood at fairly constant, readily detectable levels in normal individuals. In children with GH deficiency, the concentration of IGFs and IGFBP3 are low. Treatment with recombinant GH will increase IGF-1, IGF-2, and IGFBP3 in the blood, which will result in increased long bone growth. The epiphyseal growth plate in the bone becomes less responsive to GH and IGF-1 several years after puberty, and long bone growth stops in adulthood.

References:

• Harrison’s Principles of Internal Medicine, 17th edition.
• Davidson’s Principles and Practice of Medicine, 20th Edition
• Medical physiology, Lippincott Williams & Wilkins 3rd edition

No related posts.

Beta cells of the human pancreas produce and secrete insulin. The product of the insulin gene is a peptide known as Preproinsulin. As with other secretory peptides, the prepeptide or signal peptide is cleaved off early in the biosynthetic process, yielding proinsulin. Proinsulin is an 86-amino acid protein that is subsequently cleaved at two sites to yield insulin and a 31-amino acid peptide know as c-peptide. Insulin and c-peptide are, therefore, localized within the same secretory vesicle and are co-secreted into the bloodstream.

For these reasons, measurements of the circulating c-peptide levels can provide a valuable indirect assessment of beta cell insulin secretory capacity. In diabetes mellitus patients who are receiving exogenous insulin injections, the measurement of circulating insulin levels would not provide and useful information about their own pancreatic function because it would primarily be the injected insulin that would be measured. However, an evaluation of C-Peptide levels in such patients would provide an indirect measure of how well the beta cells were functioning with regard to insulin production and secretion.

* In above figure, red shows insulin and yellow represents C-peptide.

References:

• Harrison’s Principles of Internal Medicine, 17th edition.
• Davidson’s Principles and Practice of Medicine, 20th Edition
• Medical physiology, Lippincott Williams & Wilkins 3rd edition

No related posts.