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Doctor insights on: Primary Ovarian Insufficiency Williams Syndrome

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Is there any doctor with experience of seeing patients with Cowden's syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN hamartoma tumour syndrome?

Is there any doctor with experience of seeing patients with Cowden's syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN hamartoma tumour syndrome?

Cowden Syndrome: http://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome http://ghr.nlm.nih.gov/condition/cowden-syndrome http://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/8 Those are fairly rare disease Perhaps the above links could assist you. Seems like University of Iowa does have expertise. ...Read more

Dr. Michael Opsahl
28 doctors shared insights

Ovarian Insufficiency (Definition)

"Primary ovarian insufficiency describes a spectrum of declining ovarian functions and reduced fecundity due premature decrease in follicle number, an increase in follicle destruction or poor response to gonadotropins".This abnormal "Hypoestrogenic state" increases risks of vasomotor symptoms, urogenital atrophy, osteoporosis, fractures, cardiovascular diseases and other ...Read more


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Symptoms of polycystic ovarian syndrome?

Symptoms of polycystic ovarian syndrome?

Irregular cycles ...: Most women with pcos have one or more of: irregular periods or no cycles, acne, oily skin, unwanted hair growth especially on the face or lower stomach, infertility or subfertility (difficulty getting pregnant). Some women with pcos have little or no symptoms - we look at symptoms, blood tests and an ultrasound of the ovaries to make the diagnosis. Not all women with pcos have fertility issues. ...Read more

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Can polycystic ovarian syndrome cause?

Can polycystic ovarian syndrome cause?

Insulin resistance: May cause over-secretion of insulin, called Insulin resistance; may cause vascular, early cardiac signs, and hyperandronization (hirsutism, acne and hair ,loss), thereby also causing increased appetite for carbohydrates and obesity. ...Read more

Dr. Jay Park Dr. Park
2 doctors agreed:
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How do you differentiate bartter syndrome from gitelman syndrome?

Dr. Jay Park Dr. Park
2 doctors agreed:
How do you differentiate bartter syndrome from gitelman syndrome?

See below: Both Bartter and Gitelman syndrome has an impairment in one of the transporters involved in sodium chloride reabsorption in the loop of Henle and distal tubule, respectively. Therefore, low urine concentrating ability and normal or high urine calcium excretion is noted only in Bartter syndrome. ...Read more

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I have hypothyroidism and polycystic ovarian syndrome. Can these 2 be related? If not, what causes polycystic ovarian syndrome?

Not generally: These 2 generally are not related. Pcos is caused by Insulin resistance which leads to high male hormone levels (testosterone) in the ovary which keeps you from ovulating. Pcos is caused by multiple genes, but worsens with weight gain. Weight loss will occasionally help to resume menstruation. You should also see your doctor to make sure you get tested for diabetes/prediabetes. ...Read more

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Is patellofemoral syndrome typically associated with marfan's syndrome?

Is patellofemoral syndrome typically associated with marfan's syndrome?

PFS can happen: Marfan syndrome patients can get aches and pains in many joints because of the looser ligaments trying to hold the joints together at rest and under physical stress. Patellofemoral syndrome is common in normal, active school-aged children, so it is hard to tell whether or not it occurs more often in marfan syndrome kids. ...Read more

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What is antiphospolipid syndrome (hughes syndrome)?

What is antiphospolipid syndrome (hughes syndrome)?

Antiphospholipids: An autoimune disorder characterized by antibodies to certain phopholipids that predisposes to clotting problmes and pregnancy complications. A certain percentage will develop into systemic lupus. ...Read more

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What are frey syndrome, horner's syndrome and shy-drager syndrome?

What are frey syndrome, horner's syndrome and shy-drager syndrome?

What do they have in: They all have abnormalities of autonomics and other nervous sytem problems. ...Read more

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Adrenal fatigue syndrome, treatment?

Adrenal fatigue syndrome, treatment?

Many possibilities.: There are innumerable medical, nutritional and emotional conditions that include being tired as a symptom. These range from simple issues to those far more complex. A good checkup and blood testing would be a good starting point. If you're embarking on a regimen for adrenal fatigue, just make sure the diagnosis is accurate and the work up is complete. ...Read more

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Is lymphedema related to hashimoto's thyroiditis, fibromyalgia, or compartment syndrome?

Is lymphedema related to hashimoto's thyroiditis, fibromyalgia, or compartment syndrome?

No relation: There is no relation although all of these problems can occur in the same patient. ...Read more

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Is polycystic ovary disease a syndrome?

Is polycystic ovary disease a syndrome?

Yes: Pcos is also called stein leventhal syndrome. Strangely, you don;t have to have ovarian cysts to have this disease. Symptoms include lots of things including acne, excessive hair growth, obesity and infertility. ...Read more

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What causes turner syndrome, noonan syndrome, & the rare klippel-fell syndrome? What happens during fetal development that causes these conditions?

What causes turner syndrome, noonan syndrome, & the rare klippel-fell syndrome? What happens during fetal development that causes these conditions?

A genetic accident: During formation of the egg or sperm can leave out an x chromosome in either one. A fetus whose genetic make-up includes the germ cell missing a chr. X has turner syndrome. One of 8 different genetic mutations is passed on to a fetus by 1 parent or happens spontaneously to cause noonan syndrome. 2 related genetic mutations are passed on to the fetus by 1 parent to cause klippel-feil syndrome. ...Read more

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Is polycystic ovary syndrome related to polycystic kidney disease?

Is polycystic ovary syndrome related to polycystic kidney disease?

Totally unrelated: Apart from the word connection these are totally unrelated conditions. Having 1 does not lead to the other. Polycystic ovarian syndrome (pcos) is a complex disorder affecting the ovaries which may cause irregular cycles, fertility or metabolic problems. Polycystic kidney disease is genetic disorder and comes in two versions, both causing kidney problems, which may end in kidney failure / dialysis. ...Read more

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Can my heterozygotes status of congenital adrenal hyperplasia (21-Hydrolaxe deficiency, salt-wasting) explain hirsurtism & symptoms like polydipsia?

Can my heterozygotes status of congenital adrenal hyperplasia (21-Hydrolaxe deficiency, salt-wasting) explain hirsurtism & symptoms like polydipsia?

Maybe: Hydroxylase deficiency is actually a continuum, and there are many alleles. A workup is probably not worthwhile. Manage unwanted body hair with electrolysis or lasers -- you're doing yourself a favor. If your urinalysis (chemical, sediment), renal functions (BUN, creatinine) and concentrating ability (SG >1.020) while thirsty) are normal, I would not recommend further studies. ...Read more

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Is polycystic ovary syndrome treatable?

Is polycystic ovary syndrome treatable?

Somewhat: Hi. Standard treatments for PCOS include BCPs with a low-androgenic progestin, metformin, and spironolactone in various combinations. PCOS increases type 2 diabetes risk, and metformin helps with that too. When fertility is desired, in addition to stopping BCPs, an agent such as clomiphene may be needed as well. As the underlying cause(s) is/are incompletely understood, we still have a way to go. ...Read more

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What is primary adrenal insufficiency (addisons disease)?

What is primary adrenal insufficiency (addisons disease)?

Adrenal cortex: The adrenal cortex makes lots of hormones. Very important are cortisol and aldosterone which help maintain life and salt balance. Addison's disease is caused by adrenal cortex damage rendering it unable to make these hormones anymore, mostly autoimmune cause in us. Patients often have a bronzed look. Hydrocortisone replacement is a lifesaving necessity. Fludrocortisone may also become necessary. ...Read more

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Causes of restless leg syndrome? K+ deficiency?

Causes of restless leg syndrome? K+ deficiency?

RLS: It is a syndrome w/ symptoms of an urge to move the legs especially near bedtime, that improves w/ movement ; is worse @ rest. It typically has uneasy sensations. Besides its relation to low peripheral Dopamine levels ; some to genes, it is unclear why it occurs. Sometimes it may be secondary to other medical issues. It's recommended that you see a sleep medicine specialist to properly evaluate it. ...Read more

Dr. Fred McCurdy
63 doctors shared insights

Williams Syndrome (Definition)

Neurodevelopmental disorder characterized by loquacious personality, abnormally sensitive hearing, supravalvular aortic stenosis, mental retardation, elfin facies, association with hypercalcemia due to abnormal sensitivity to vitamin d, idiopathic hypercalcemia of pregnancy. Due to deletion in elastin gene and probably several ...Read more


Dr. David Frankfurter
116 doctors shared insights

Primary Ovarian Insufficiency (Definition)

Premature ovarian failure is a loss of normal function of your ovaries before age 40. If your ovaries fail, they don't produce normal amounts of the hormone estrogen ...Read more