Pituitary stalk interruption syndrome

Discussion:

Pituitary stalk interruption syndrome needs MRI for the diagnosis and shows absent or hypoplastic anterior pituitary gland, thin or absent infundibulum, and ectopic posterior pituitary. 

Exome targeted for panhypopituitaryism: finding of variant in chromosic position / genotype chr1: 180199740 c / t; gen lhx4 (mim # 602146) nm_033343.3 c.76 c> t p. (gln26 *) exon 1 nonsense heterozygous (51%) / 189x. dbsnp id -; predicted in silico np. categorization of the variant: probably pathogenetic.

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