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Doctor insights on: What Symptoms Does Someone With Congenital Adrenal Hyperplasia Have

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What symptoms does someone with congenital adrenal hyperplasia have?

What symptoms does someone with congenital adrenal hyperplasia have?

CAH: This is due to the lack of an enzyme needed for the adrenals to make cortisol and aldosterone. The body then uses the precursors to make androgen (male hormones) instead. Symptoms for girls: deep voice, abnormal menstruation, early appearance of pubic/armpit hairs, genitials looking both male and female...For boys: deep voice, enlarged penis, small testes, early appearance of pubic, armpit hair... ...Read more

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Dr. Vered Lewy-Weiss
67 doctors shared insights

Congenital Adrenal Hyperplasia (Definition)

A collection of genetic conditions that limit your adrenal glands' ability to ...Read more


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What symptoms does someone with congenital heart disease always have?

What symptoms does someone with congenital heart disease always have?

Vary: This very much depends upon what type of congenital heart disease a patient has and how it behaves it that particular individual. The same form of congenital heart disease such can produce minimal or no symptoms in one patient and can produce symptoms of heart failure in another. ...Read more

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Can late onset congenital adrenal hyperplasia be confused with addison's or have both?

Can late onset congenital adrenal hyperplasia be confused with addison's or have both?

Yes and no: Both can present with low blood sodium and high potassium and increased pigmentation, but further testing can separate the diagnosis. Addison's by itself in children is very rare. ...Read more

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Bilaterally which is a nonspecific finding that can be associated with polycystic ovarian syndrome does this mean I can't have children ?

Bilaterally which is a nonspecific finding that can be associated with polycystic ovarian syndrome does this mean I can't have children 
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Bilateral what ??: Bilateral just beans both sides. It is not a diagnosis it is a location designation. Women with PCOS may have more difficulty attaining pregnancy but most will do so . ...Read more

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What symptoms does someone with renal cell cancer have?

What symptoms does someone with renal cell cancer have?

It varies: Renal cell carcinoma (rcc) unfortunately is usually asymptomatic until it's advanced stage. If it causes symptoms, it may present as blood in the urine, flank pain. If it spreads to other organs, it can cause problems in those areas including bone pain, shortness or breath, fatigue. Not uncommonly, rcc is picked up incidentally on ct scan of the abdomen but there is no role for ct screening. ...Read more

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What symptoms does someone with childhood brain tumors have?

What symptoms does someone with childhood brain tumors have?

Variable: It depends on where in the brain it is. Early morning vomiting could be one. Depending on the area it is and the function or surrounding structures of the area will determine the symptoms. The brain in divided into different areas and the symptoms will relate to it. ...Read more

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How is someone diagnosed with hypereosinophilic syndrome? What are the signs?

How is someone diagnosed with hypereosinophilic syndrome? What are the signs?

High eos and exclude: HES is when there is elevated eosinophil count (? 1500 eosinophils/mm³) in the blood for at least 6 months without any recognizable cause, with involvement of either the heart, nervous system, or bone marrow. HES affects many organs at the same time, symptoms may include rash, hives, dizziness, cough, short of breath, confusion, memory loss, fever, fatigue and mouth sores. ...Read more

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What do you suggest if my mother has been diagnosed with metastatic adenocarcinoma with mucinous features. what does this mean?

What do you suggest if my mother has been diagnosed with metastatic adenocarcinoma with mucinous features. what does this mean?

Many things: Adenocarcinoma means a cancer derived of epithelial cells of glandular origin (not from a gland necessarily). Metastatic means that it has spread. Mucinous features means that the pathologist saw areas of mucin outside the cells, the significance of this depends on how much and where. It being metastatic is probably the most important thing prognostically, but please discuss with oncologist. ...Read more

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Does being diagnosed with hyperprolactinemia mean that you do have a tumor in the pituitary?

Does being diagnosed with hyperprolactinemia mean that you do have a tumor in the pituitary?

High prolactin: Not necessarily -- high prolactin can be caused by other things ie medications, pregnancy, stress, thyroid dysfunction , nipple stimulation, lab error. ...Read more

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What symptoms could cause someone to be misdiagnosed with thanatophoric dysplasia?

What symptoms could cause someone to be misdiagnosed with thanatophoric dysplasia?

Very rare: Thanatophoric dysplasia is a severe skeletal disorder characterized by a disproportionately small ribcage, extremely short limbs and folds of extra skin on the arms and legs. This is a very rare disorder that happens in children, so you need to consult with a pediatrician about this. Best wishes, ariel. ...Read more

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What symptoms does someone with canavan disease have?

What symptoms does someone with canavan disease have?

Progressive delays.: Canavan disease, a genetic disorder caused by an enzyme deficiency in one kind of brain cell, is characterized by worsening developmental delays, worsening muscle tone, large head, and mental retardation. It is a devastating disease with degeneration of nerve tissue. ...Read more

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Hello, my girlfriend diagnosed with enlarged thyroid gland with heterogeneous echo pattern consider thyroid parenchymal disease, what does that mean?

Hello, my girlfriend diagnosed with enlarged thyroid gland with heterogeneous echo pattern consider thyroid parenchymal disease, what does that mean?

Thyroid big: 24 M from Philippines states girlfriend has enlarged thyroid with echo showing scatter suggestive of thyroid disease. This means she has an enlarged thyroid. But the cause cannot be determined. She needs to see a thyroid specialist/endocrinologist to figure out what is going on. They will know what is the most likely prob in your part of the world and how to best evaluate and treat her if needed. ...Read more

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What does it mean if a person have lacrimation problems with fatal familial insomnia or sporadic fatal insomnia?

What does it mean if a person have lacrimation problems with fatal familial insomnia or sporadic fatal insomnia?

Lacrimation problems: Early in familial or sporadic fatal insomnia, a person may experience altered attentiveness, trouble initiating sleep, and periods of high fever, sweating, salivation, and lacrimation. This is excessive lacrimation rather than inability to weep tears. There are also uncoordinated movements, myoclonus, and hyperreflexia on neuro exam. Lacrimation is not the center of this syndrome. ...Read more

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What does it mean having weak adrenal glands with hyper pigmentation?

What does it mean having weak adrenal glands with hyper pigmentation?

Weak adrenals: For your skin color change and your "weak" adrenals, you need to see an endocrinologist and be evaluated for addison's disease. Do so as soon as possible. ...Read more

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What does it mean if you are diagnosed with hemihypertrophy?

"Half is big": Hemi-hypertrophy is a term used to imply that half the body is larger than the other half. It is occasionally seen in some named syndromes. ...Read more

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My mother has been diagnosed with metastatic adenocarcinoma with mucinous features. Can you explain what this means?

Glandular activity: Primary tumors with mucinous features are those that are derived from organs producing mucin to allow the organ to function. The most common organ whose tumor,an adenocarcinoma, has mucinous features is that from colon. As such the metastatic tumors would have segmental areas within the spreading lesion that demonstrates the presence of fields of mucin on histologic exam. ...Read more

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What to be aware of when diagnosed with adrenal insufficiency?

What to be aware of when diagnosed with adrenal insufficiency?

ID and sick days: Patients should get a medical id bracelet denoting the adrenal insufficiency status, as any situation where you can't speak for yourself, additional steroids given by medical personnel may be life saving. Also, know your sick day rules and learn how to give Dexamethasone for days you can't swallow your steroid pills. ...Read more

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Why do female patients with congenital adrenal hyperplasia not have male internal genitalia?

Why do female patients with congenital adrenal hyperplasia not have male internal genitalia?

TheyAreFemaleKaryoty: Females with congenital adrenal Hyperplasia severe variety may have large clitoris and external genitalia may look like male but they are Female Karyotype on Chromosome exam and internal organs are female It is due to exposure to high concentration of Androgens in utero ...Read more