Abstract
ObjectivesTo study the diagnostic delay for pituitary stalk interruption syndrome (PSIS) with growth hormone deficiency (GHD) and the sensitivity of the auxological criteria of the Growth Hormone Research Society (GHRS) consensus guidelines.MethodsA single-center retrospective case-cohort study covering records from January 2000 through December 2007 evaluated the performance of each GHRS auxological criterion for patients with GHD and PSIS. Diagnostic delay was calculated as the difference between the age at which the earliest GHRS criterion could have been observed and the age at diagnosis of PSIS with GHD. A diagnostic delay exceeding one year was defined as late diagnosis.ResultsThe study included 21 patients, 16 (76%) of whom had isolated GHD and 5 (24%) multiple pituitary hormone deficiencies. The median age at diagnosis was 3.6 years (interquartile range, IQR, 2.6–5.5). The median diagnostic delay was 2.3 years (range 0–12.6; IQR 1.5–3.6), with late diagnosis for 17 patients (81%). Height more than 1.5 SDS below target height was the most effective criterion: 90% of the patients met the criterion before diagnosis at a median age of 1 year, and it was the first criterion to be fulfilled for 84%.ConclusionIn our cohort, the delay for diagnosis of PSIS with GHD was long and could have been reduced by using the GHRS criteria, in particular, height more than 1.5 SDS below the target height. The specificity of such a strategy needs to be tested in healthy populations.
Highlights
Growth hormone (GH) deficiency (GHD) can be congenital or acquired
Characteristics of the population During the study period, 67 patients seen for growth failure had pituitary stalk interruption syndrome (PSIS) and/or growth hormone deficiency (GHD): 38 (57%) had GHD with a normal magnetic resonance imaging (MRI) or an isolated hypoplastic anterior pituitary gland, 2 (3%) had GHD and PSIS but had been adopted, six (9%) patients had GHD and PSIS diagnosed in the neonatal period
Auxological criteria in the largest reported cohort of children seen for PSIS with GHD since the publication of these criteria
Summary
Growth hormone (GH) deficiency (GHD) can be congenital or acquired. The incidence of congenital GHD has been assessed at from 1/4000 to 1/10 000 [1,2,3,4]. The pituitary stalk interruption syndrome (PSIS) is a sign of congenital and permanent GHD [5,6,7]. It is diagnosed by magnetic resonance imaging (MRI) and includes the absence of both a visible pituitary stalk and normal posterior lobe hyperintense signals in the sella turcica, together with the presence of a hyperintense nodule in the region of the infundibular recess of the third ventricle. It is important to diagnose GHD and start treatment as soon as possible because this deficiency is associated with excess mortality and substantial morbidity [9,10]. The mean ages reported for diagnosis of symptomatic PSIS in various studies range from 4 to 9 years and suggest important diagnostic delay [5,7,12,13,15]
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