obsolete endocrine syndrome

Obsolete Endocrine Syndrome: A Rare Condition

The obsolete endocrine syndrome, also known as "gigantism," is a rare condition that affects the endocrine system. It is characterized by excessive growth hormone production, leading to abnormal growth and development.

Signs and Symptoms:

• Excessive Growth: One of the primary signs of gigantism is excessive growth, which can result in an individual growing significantly taller than average [10].
• Facial Features: People with gigantism often have distinctive facial features, including a large jaw, prominent forehead, and wide-set eyes [12].
• Cognitive Impairment: Gigantism has been linked to cognitive impairment, including developmental delay, global cognitive impairment, and behavior problems such as stubbornness and obsessive-compulsive behaviors [15].
• Renal and Urinary Issues: Some individuals with gigantism may experience renal and urinary issues, including supravalvular aortic stenosis [12].
• Metabolic Symptoms: In some cases, people with gigantism may exhibit metabolic symptoms, such as ketoacidosis, which can cause chronic fatigue, polydipsia, and polyuria [13].

Important Note:

It's worth noting that the obsolete endocrine syndrome is a rare condition, and these signs and symptoms are not typically associated with modern-day endocrine disorders. However, it's essential to be aware of these characteristics in case they arise.

References:

[10] - Endocrine diseases and disorders range in severity, and can be very common, like diabetes, or very rare, like gigantism. Learn more about a range of these conditions. [12] - Common clinical features of this syndrome include dysmorphic facial features, global cognitive impairment, supravalvular aortic stenosis, and renal and urinary issues. [13] - Despite normoglycaemia the patient exhibited symptoms of ketoacidosis, including chronic fatigue, polydipsia, and polyuria. Diagnostic workup revealed metabolic abnormalities. [15] - Other clinical features include developmental delay, cognitive disability, and behavior problems, specifically stubbornness, obsessive-compulsive behaviors.

Obsolete Diagnostic Tests for Endocrine Syndromes

Several diagnostic tests have been deemed obsolete or unreliable for diagnosing various endocrine syndromes. These include:

• Urinary 17-ketosteroids test: This test was previously used to diagnose Cushing's syndrome, but its accuracy is too low to recommend it for testing [13].
• 1600 h or other random cortisol levels: These tests were also used to diagnose Cushing's syndrome, but their diagnostic accuracy is too low to be recommended [13].
• Insulin tolerance test: This test was previously advocated for the diagnosis of Cushing's syndrome, but its diagnostic accuracy is too low to recommend it for testing [13].
• Loperamide test: This test has insufficient evidence for its diagnostic accuracy and should not be used for diagnosing endocrine syndromes [13].

These tests have been largely replaced by more accurate and reliable methods, such as genetic testing, hormonal tests, and imaging studies. For example:

• Genetic testing is now the diagnostic test of choice for MEN1 and MEN2 patients, looking for the MENIN gene and RET oncogene respectively [9].
• Hormonal tests, such as measuring cortisol levels, can help diagnose Cushing's syndrome and other endocrine disorders.
• Imaging studies, such as CT scans and MRI, can be used to locate tumors and evaluate endocrine disorders.

It is essential to consult with a qualified healthcare professional for accurate diagnosis and treatment of endocrine syndromes.

Based on the provided context, it appears that there are various treatments available for endocrine disorders, including drug treatment.

According to search result [2], when transsphenoidal surgery (TSS) does not cure Cushing's disease (CD), four treatments are available: drug treatment (DT), second TSS (2nd TSS), bilateral adrenalectomy (BA), and radiation therapy (RT). Drug treatment is one of the options for managing CD.

Search result [5] mentions that among glucocorticoid receptor-directed drugs, mifepristone has been demonstrated to improve symptoms in patients with Cushing's disease. Additionally, search result [6] describes the longest duration of mifepristone therapy thus reported for the treatment of refractory Cushing disease.

Furthermore, search result [7] discusses a treatment approach that combines a pituitary-directed drug (cabergoline) with an adrenal steroidogenesis inhibitor (ketoconazole), which is effective in managing CD.

It's worth noting that these treatments are specifically mentioned in the context of Cushing's disease, but may be relevant to other endocrine disorders as well. However, more research would be needed to confirm this.

Here are some key points about drug treatment for endocrine disorders:

• Drug treatment is one of the options available when transsphenoidal surgery does not cure Cushing's disease.
• Mifepristone has been shown to improve symptoms in patients with Cushing's disease.
• A combination of cabergoline and ketoconazole can be effective in managing CD.
• Other treatments, such as second TSS, bilateral adrenalectomy, and radiation therapy, may also be considered.

References:

[2] by A Ghalawinji · 2024 · Cited by 4 [5] by R Pivonello · 2020 · Cited by 112 [6] by M Basina · 2012 · Cited by 24 [7] by D Cuevas-Ramos · 2016 · Cited by 53

Differential Diagnosis of Cushing's Syndrome

Cushing's syndrome, also known as hypercortisolism, is a rare endocrine disorder that can be challenging to diagnose and manage. The differential diagnosis of this condition involves considering various possible causes, including:

• Adrenal carcinoma: A rare type of cancer that affects the adrenal glands, leading to excessive production of cortisol hormone.
• Pituitary adenoma: A non-cancerous tumor in the pituitary gland that can cause an overproduction of adrenocorticotropic hormone (ACTH), leading to increased cortisol levels.
• Ectopic ACTH-producing tumors: Rare tumors outside the pituitary gland that produce ACTH, causing excessive cortisol production.
• Other rare causes: Such as genetic syndromes, like multiple endocrine neoplasia type 1 (MEN1), or other endocrine disorders.

Diagnostic Challenges

The diagnosis of Cushing's syndrome can be complex due to its rarity and the presence of overlapping symptoms with other conditions. A multidisciplinary team of endocrinologists, surgeons, and radiologists is essential for accurate diagnosis and management.

Diagnostic Tests

Several diagnostic tests are used to establish a diagnosis of Cushing's syndrome, including:

• Corticotropin-releasing hormone (CRH) test: Evaluates the body's response to CRH, which stimulates the release of ACTH.
• Desmopressin test: Assesses the body's response to desmopressin, a synthetic form of vasopressin that can stimulate cortisol production.
• High-dose dexamethasone suppression test (HDDST): Evaluates the body's ability to suppress cortisol production in response to high doses of dexamethasone.

References

1. The 2008 guideline on the diagnosis of Cushing’s Syndrome [6] provides recommendations for the diagnosis of Cushing’s Syndrome.
2. A dexamethasone suppression test is used routinely to make a differential diagnosis between Cushing's syndrome and PCOS [9].
3. Understanding the advantages and pitfalls of the diagnostic methods used in Cushing's syndrome is essential for accurate diagnosis and management [14].