Autosomal dominant isolated somatotropin deficiency- MedGen UID:
- 124405
- •Concept ID:
- C0271567
- •
- Disease or Syndrome
Type II IGHD is an autosomal dominant disorder characterized by low but detectable levels of growth hormone (GH), variable height deficit and age at presentation, and good response to rhGH. Patients may show anterior pituitary hypoplasia on MRI (summary by Phillips and Cogan, 1994; Alatzoglou and Dattani, 2012).
Pituitary dwarfism with large sella turcica- MedGen UID:
- 78778
- •Concept ID:
- C0271575
- •
- Disease or Syndrome
Panhypopituitarism, X-linked- MedGen UID:
- 87439
- •Concept ID:
- C0342376
- •
- Disease or Syndrome
Short stature due to growth hormone qualitative anomaly- MedGen UID:
- 340412
- •Concept ID:
- C1849779
- •
- Disease or Syndrome
Kowarski syndrome, or short stature associated with bioinactive growth hormone, is characterized clinically by normal or slightly increased GH secretion, pathologically low IGF1 (147440) levels, and normal catch-up growth on GH replacement therapy (Besson et al., 2005).
Short stature-pituitary and cerebellar defects-small sella turcica syndrome- MedGen UID:
- 394816
- •Concept ID:
- C2678408
- •
- Disease or Syndrome
Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor <i>LHX4</i> gene (1q25).
Non-acquired combined pituitary hormone deficiency with spine abnormalities- MedGen UID:
- 483740
- •Concept ID:
- C3489787
- •
- Disease or Syndrome
Combined pituitary hormone deficiency-3 (CPHD3) is an autosomal recessive disorder characterized by hypopituitarism with structural anterior pituitary defects and cervical abnormalities with or without restricted neck rotation. Some patients have sensorineural hearing loss (summary by Rajab et al., 2008).
For a discussion of phenotypic and genetic heterogeneity of combined pituitary hormone deficiency, see CPHD1 (613038).