1. Diseases
  2. Pituitary gigantism

Pituitary gigantism

Disease Export to PDF
Name:
Pituitary gigantism
Description:
A rare endocrine disease characterized by excessively tall stature and rapid growth velocity due to growth hormone excess from a pituitary adenoma/hyperplasia occurring before closure of the epiphyseal growth plates. Additional features may include pubertal delay, visual defects, headache, excessive appetite, hyperhidrosis, menstrual irregularity, prognathism, coarse facial features and large hands/feet.
ORPHAcode:
99725
Synonyms:
Hypophyseal gigantism
Infantile and juvenile forms of acromegaly
XREF(s):
Orphanet
MeSH
MedDRA
ICD-10
OMIM
Analyte(s):
AIP
MEN1
Created:
04 Feb 2020 - 15:13
Changed:
22 Jun 2023 - 16:14
  • Pituitary adenoma (5 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AIP 100.00 1 Part of custom Onco-endocrino panel
    CDKN1B 100.00 1 Part of custom Onco-endocrino panel
    MEN1 100.00 1 Part of custom Onco-endocrino panel
    RET 100.00 1 Part of custom Onco-endocrino panel
    PRKAR1A 100.00 1 Part of custom Onco-endocrino panel