Rare Diseases Symptoms Automatic Extraction

Familial Cushing syndrome due to thymic carcinoids in a multiple endocrine neoplasia type 1 kindred.

[cushing syndrome]

The objective of this study is to present a familial Cushing syndrome (CS) caused by multiple endocrine neoplasia type 1 (MEN-1)-associated thymic carcinoid. Immunohistochemistry, gene sequencing, loss of heterozygosity analysis, and Western blot were used to determine the expression of ACTH in MEN-1-related thymic tumors, MEN1 gene mutation, the pattern and extent of allelic deletion, and the expression of Menin in MEN-1-associated tumors, respectively. Tumor cells from thymus ectopic-secreted ACTH. A deletion involving the MEN1 gene locus was confirmed. The expression of Menin in MEN-1-associated tumors declined. To conclude, we presented an unusual kindred of MEN-1, which pointed out the significance of making screening of MEN-1 for both male and female patients with CS and thymic carcinoid.

Diseases presenting "female patients" symptom

  • adrenomyeloneuropathy
  • aromatase deficiency
  • benign recurrent intrahepatic cholestasis
  • carcinoma of the gallbladder
  • classical phenylketonuria
  • congenital adrenal hyperplasia
  • cushing syndrome
  • erdheim-chester disease
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • heparin-induced thrombocytopenia
  • lymphangioleiomyomatosis
  • oligodontia
  • papillon-lefèvre syndrome
  • phenylketonuria
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • trochlear dysplasia
  • von hippel-lindau disease
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy

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