Rare Diseases Symptoms Automatic Extraction

Pituitary gland development: an update.

[kallmann syndrome]

The embryonic development of the pituitary gland involves a complex and highly spatio-temporally regulated network of integrating signalling molecules and transcription factors. Genetic mutations in any of these factors can lead to congenital hypopituitarism in association with a wide spectrum of craniofacial/midline defects ranging from incompatibility with life to holoprosencephaly (HPE) and cleft palate and septo-optic dysplasia (SOD). Increasing evidence supports a genotypic overlap with hypogonadotrophic hypogonadal disorders such as Kallmann syndrome, which is consistent with the known overlap in phenotypes between these disorders. This chapter reviews the cascade of events leading up to the successful development of the pituitary gland and to highlight key areas where genetic variations can occur thus leading to congenital hypopituitarism and associated defects.

Diseases presenting "wide spectrum" symptom

  • 22q11.2 deletion syndrome
  • acute rheumatic fever
  • adrenal incidentaloma
  • adrenomyeloneuropathy
  • alexander disease
  • allergic bronchopulmonary aspergillosis
  • canavan disease
  • classical phenylketonuria
  • focal myositis
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kabuki syndrome
  • kallmann syndrome
  • krabbe disease
  • lamellar ichthyosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • oligodontia
  • primary hyperoxaluria type 1
  • proteus syndrome
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy

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