Article
Panhypopituitarism presenting as life-threatening heart failure caused by an inherited microdeletion in 1q25 including LHX4.
Pediatrics - 1 Feb 2012
Filges Isabel, Bischof-Renner Andrea, Röthlisberger Benno, Potthoff Christian, Glanzmann René, Günthard Joëlle, Schneider Jacques, Huber Andreas R, Zumsteg Urs, Miny Peter, Szinnai Gabor
Abstract excerpt
Clinical presentation of hypopituitarism in the neonate may be variable, ranging from absent to severe nonspecific symptoms and may be life-threatening in patients with adrenocorticotropic hormone deficiency. The LIM homeobox gene 4 (LHX4) transcription factor regulates early embryonic development of the anterior pituitary gland. Autosomal dominant mutations in LHX4 cause congenital hypopituitarism with variable...
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