Brief Summary: This paper describes 5 related Karelian Bear Dogs (KBDs) with a canine hypopituitarism phenotype. Genome-wide association analysis (GWAS) and next-generation sequencing revealed homozygous candidate gene defect in POU1F1. The study thus presents novel animal model for human hypopituitarism.

Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary endocrine dysfunction. We report 5 children with SOD, originally referred to be evaluated due to short stature, who also presented bilateral optic nerve hypoplasia, nystag...

Micropenis is an important sign in neonates, since it may be the only clue to the diagnosis of panhypopituitarism, a potentially lethal but eminently treatable condition. Case reports Case 1-A boy infant was delivered at 37 weeks' gestation after an uncomplicated pregnancy. Birth weight was 2200 g. He was asphyxiated and successfully resuscitated but remained hypotonic. Jaundice developed on th...

A patient with congenital hypopituitarism associated with cholestasis is reported here. Large doses of fat-soluble hormones (hydrocortisone (20 mg/m(2)/day) and L-thyroxine (14 μg/kg/day)) were needed to resolve hypoglycemia and hypothyroidism during cholestasis. The doses could be reduced to 10 mg/m(2)/day and 3.5 μg/kg/day, respectively, after improvement of cholestasis. Sodium valproate, whi...

CHARGE syndrome is a congenital disorder caused by mutation of the chromodomain helicase DNA binding protein 7 (CHD7) gene and is characterized by multiple anomalies including ocular coloboma, heart defects, choanal atresia, retarded growth and development, genital and/or urological abnormalities, ear anomalies, and hearing loss. In the present study, 76% of subjects had some type of endocrine ...