Objective: Multiple pituitary hormone deficiency (MPHD) may result from defects of transcription factors that govern early pituitary development. We aimed to establish the prevalence of HESX1, PROP1, and POU1F1 gene defects in a population-based cohort of patients with MPHD and to analyse the phenotype of affected individuals. Design and methods: Genomic analysis was carried out on 74 children and adults with MPHD from the Czech Republic (including four sibling pairs). Phenotypic data were collected from medical records and referring physicians. Results: One patient carried a heterozygous mutation of POU1F1 (71C . T), and 18 patients (including three sibling pairs) had a PROP1 mutation (genotypes 150delA/301delGA/9/, 301delGA/301-delGA/8/, or 301delGA/349T . A/1/). A detailed longitudinal phenotypic analysis was performed for patients with PROP1 mutations (n ¼ 17). The mean (^S.D.) birth length SDS of these patients (0.12^0.76) was lower than expected based on their mean (^S.D.) birth weight SDS (0.63^1.27; P¼0.01). Parental heights were normal. The patients' mean (^S.D.) height SDS declined to 2 1.5^0.9, 23.6^1.3 and 2 4.1^1.2 at 1.5, 3 and 5 years of age, respectively. GH therapy, initiated at 6.8^3.2 years of age (mean dose: 0.022 mg/kg per day), led to substantial growth acceleration in all patients. Mean adult height (n ¼ 7) was normal when adjusted for mid-parental height. ACTH deficiency developed in two out of seven young adult patients. Conclusions: PROP1 defects are a prevalent cause of MPHD. We suggest that testing for PROP1 mutations in patients with MPHD might become standard practice in order to predict risk of additional pituitary hormone deficiencies.

Children with T1DM often suffer from nocturnal, white coat- and masked HTN, which can not be assessed and predicted by the OBP.

Pulse pressure (PP) and ambulatory arterial stiffness index (AASI) can be calculated from ambulatory blood pressure (BP) monitoring (ABPM) and have been suggested as markers of arterial stiffness and predictors of cardiovascular mortality. We retrospectively evaluated PP and AASI from ABPM records in 84 children (43 boys) with diabetes mellitus type-1 (DMT1) compared with 27 non-diabetic normotensive children. Based on office BP and ABPM, patients with DMT1 were divided into three groups: 24/84 (29%) had hypertension (DM HTN), 33/84 (39%) were normotensive (DM NT) and 27/84 (32%) had white-coat hypertension (DM WCH). DM WCH and DM HTN patients had significantly higher PP when compared with DM NT and NT patients alone (47.62 ± 7.31 and 47.43 ± 8.68 versus 41.45 ± 4.44 and 42.18±5.97, respectively, P ¼ 0.0002). Similarly, AASI was significantly elevated in both DM WCH and DM HTN patients when compared with NT patients (0.35 ± 0.14 and 0.36 ± 0.15 versus 0.23 ± 0.15, respectively, P ¼ 0.007). In conclusion, children with DMT1 and hypertension, including WCH, had significantly higher PP and AASI levels when compared with normotensive patients. This suggests that these children may be at an increased risk for developing cardiovascular complications later on in life.

The 45,X karyotype is associated with the highest prevalence of BAV. Also, the presence of the 45,X cell line in any mosaic karyotype increases the probability of BAV.