Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy.

Jayant, Satyam Singh; Gupta, Rahul; Agrawal, Kanhaiya; Das, Liza; Dutta, Pinaki; Bhansali, Anil

Jayant, Satyam Singh; Gupta, Rahul; Agrawal, Kanhaiya; Das, Liza; Dutta, Pinaki; Bhansali, Anil.

Affiliation

Jayant SS; Department of Endocrinology, PGIMER, Chandigarh, 160012, India.
Gupta R; Department of Endocrinology, PGIMER, Chandigarh, 160012, India.
Agrawal K; Department of Endocrinology, PGIMER, Chandigarh, 160012, India.
Das L; Department of Endocrinology, PGIMER, Chandigarh, 160012, India.
Dutta P; Department of Endocrinology, PGIMER, Chandigarh, 160012, India. Pinaki_dutta@hotmail.com.
Bhansali A; PGIMER, 108, Nehru Extension Block, Chandigarh, 160012, India. Pinaki_dutta@hotmail.com.

Hormones (Athens) ; 20(1): 197-205, 2021 Mar.

Article in En | MEDLINE | ID: mdl-32700293

Subject(s)

Adrenal Insufficiency/complications; Adrenal Insufficiency/genetics; Esophageal Achalasia/complications; Esophageal Achalasia/genetics; Muscular Atrophy, Spinal/genetics; Muscular Atrophy, Spinal/pathology; Nerve Tissue Proteins/genetics; Nerve Tissue Proteins/metabolism; Nuclear Pore Complex Proteins/genetics; Nuclear Pore Complex Proteins/metabolism; Adrenal Cortex Hormones/therapeutic use; Adrenal Insufficiency/drug therapy; Calcium Channel Blockers/therapeutic use; Esophageal Achalasia/drug therapy; Humans; Lubricant Eye Drops; Male; Mutation; Nifedipine/therapeutic use; Young Adult

Key words

AAAS gene; ACTH resistance; Achalasia; Amyotrophy; Triple A syndrome

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Full text: 1 Database: MEDLINE Main subject: Muscular Atrophy, Spinal / Esophageal Achalasia / Adrenal Insufficiency / Nuclear Pore Complex Proteins / Nerve Tissue Proteins Type of study: Risk_factors_studies / Screening_studies Language: En Journal: Hormones (Athens) Year: 2021 Type: Article Affiliation country: India

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