Pituitary hormone deficiency

Gene: CDON

I don't know

Caution required: variants in CDON are associated with HPE, and as part of that other midline features, including pituitary abnormalities can be expected in some affected individuals. However, caution is warranted if the presenting phenotype is isolated pituitary hormone deficiency as limited reports, particularly in the absence of structural abnormality to suggest mild end of spectrum for HPE.

Created: 17 Dec 2020, 5:02 a.m. | Last Modified: 17 Dec 2020, 5:02 a.m.

Panel Version: 0.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

I don't know

PMID: 21802063: Patient with a de novo missense supported by functional work, had an absent pituitary

PMID: 29749693: absent pituitary not mentioned as a feature of K/O mice

PMID: 32729136: Review, notes a patient with a maternally inherited PTC (p.Glu922*) had pituitary stalk interruption syndrome (refers to PMID: 26529631)

PMID: 33270637: 1 het missense (VUS) and 1 het PTC (p.Glu922* pathogenic) reported in patients with pituitary stalk interruption syndrome.
PMID: 33270637 and PMID: 26529631 have overlapping authors, but specifically identifies if patients had been previously published.

PMID: 27974186: 1 patient with anterior pituitary hypoplasia and ectopic posterior pituitary

Summary: 3 patients

Created: 17 Dec 2020, 2:30 a.m. | Last Modified: 17 Dec 2020, 2:30 a.m.

Panel Version: 0.7

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Holoprosencephaly 11 MIM#614226

Publications

• PMID: 21802063
• 29749693
• 32729136
• 33270637
• 26529631
• 27974186