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Combined pituitary hormone deficiencies, genetic forms

ORPHA:95494 · Disease · Disorder

HPO 表現型（共 39 項）

Obligate (100%)(1)

  • HypopituitarismHP:0040075

Frequent (79-30%)(18)

  • Abnormal prolactin levelHP:0040086
  • Abnormality of secondary sexual hairHP:0009888
  • AmenorrheaHP:0000141
  • Anterior pituitary agenesisHP:0010626
  • Anterior pituitary hypoplasiaHP:0010627
  • Aplasia/Hypoplasia of the breastsHP:0010311
  • Decreased circulating ACTH concentrationHP:0002920
  • Decreased response to growth hormone stimulation testHP:0000824
  • Decreased testicular sizeHP:0008734
  • Depressed nasal ridgeHP:0000457
  • FatigueHP:0012378
  • Growth delayHP:0001510
  • HypoglycemiaHP:0001943
  • Hypogonadotropic hypogonadismHP:0000044
  • HypotensionHP:0002615
  • InfertilityHP:0000789
  • OsteopeniaHP:0000938
  • Pituitary hypothyroidismHP:0008245

Occasional (29-5%)(6)

  • Absence of secondary sex characteristicsHP:0008187
  • ConstipationHP:0002019
  • Delayed pubertyHP:0000823
  • Delayed skeletal maturationHP:0002750
  • Osteoporosis of vertebraeHP:0005625
  • Pituitary dwarfismHP:0000839

Very rare (<4-1%)(14)

  • Abnormal digit morphologyHP:0011297
  • Abnormality of the eyeHP:0000478
  • Absent septum pellucidumHP:0001331
  • Agenesis of corpus callosumHP:0001274
  • Decreased cervical spine mobilityHP:0004637
  • Ectopic anterior pituitary glandHP:0012731
  • Ectopic posterior pituitaryHP:0011755
  • HoloprosencephalyHP:0001360
  • Median cleft palateHP:0009099
  • Optic nerve hypoplasiaHP:0000609
  • PolydactylyHP:0010442
  • SeizureHP:0001250
  • Septo-optic dysplasiaHP:0100842
  • Severe global developmental delayHP:0011344