Endocrine Abstracts

Background: Combined pituitary hormone deficiency (CPHD) is characterized by multiple pituitary hormone deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. The genetic basis for CPHD is complex, involving a variety of syndromic and non-syndromic presentations with variable degrees of phenotype-genotype correlations. In male infants with CPHD, gonadotropin deficiency is suggested by the presence of a microphallus and undescended ...