True growth hormone deficiency (GHD) in childhood, while rare, has major clinical
consequences. GHD is often associated with other pituitary hormone deficiencies, so these …

Objective Congenital MPHD is a rare condition caused by mutations in pituitary transcription
factors genes: PROP1, POU1F1 (PIT1), HESX1, LHX3, LHX4. Design We evaluated in a …

Longitudinal growth results from multifactorial and complex processes that take place in the
context of different genetic traits and environmental influences. Thus, in view of the …

Background: Glucagon stimulation is routinely used as a provocative test to assess growth
hormone (GH) sufficiency in pediatrics. Ghrelin also markedly stimulates GH secretion …

The most common practice in children with growth hormone (GH) deficiency is to
discontinue GH treatment in adolescence after attainment of final height. Childhood-onset …

Introduction Practice guidelines cannot recommend establishing a diagnosis of growth
hormone deficiency (GHD) without performing growth hormone stimulation tests (GHST) in …

Defects in the growth hormone (GH)-insulin-like growth factor (IGF)-I axis may cause GH
resistance characterized by IGF-I deficiency and growth failure. The range of defects causing …

Introduction: Oral clonidine is one of the most frequent drugs used for the diagnosis of
growth hormone deficiency (GHD), but the duration of the test, depending on which …

The diagnosis of growth hormone deficiency (GHD) was essentially a clinical one prior to the
advent of radioimmunoassay in the mid-1960s. From this point on both clinical and …

Germline gain of function variations in the AKT3 gene cause brain overgrowth syndrome
with megalencephaly and diffuse bilateral cortical malformations. Here we report a child with …