0000000000773922

AUTHOR

Roland Pfäffle

showing 2 related works from this author

MRI findings and genotype analysis in patients with childhood onset growth hormone deficiency--correlation with severity of hypopituitarism.

2007

Aim: To evaluate the relationship between pituitary size, PIT1 and PROP1 genotype, and the severity of childhood onset growth hormone deficiency (coGHD). Patients: Forty-four patients with coGHD (34 M; 9.7 ± 4.1 years): severe isolated (SI) GHD (n = 14); partial isolated (PI) GHD (n = 13); multiple pituitary hormone deficiencies (MPHD) (n=17). Results: Pituitary abnormalities were found in 7/14 patients with SIGHD (50%), 16/17 patients with MPHD (94.1%), and no patient with PIGHD. Mean pituitary height (PHT SDS) was significantly lower in MPHD than in SIGHD and PIGHD. Pituitary height SDS and pituitary volume (PV) SDS correlated with IGF-I SDS and stimulated GH peaks in the SIGHD and MPHD g…

Malemedicine.medical_specialtyAdolescentGenotypeEndocrinology Diabetes and MetabolismGenotype AnalysisHypopituitarismHypopituitarismGrowth hormone deficiencyCorrelationEndocrinologyInternal medicineAge Determination by SkeletonGenotypemedicineHumansIn patientAge of OnsetChildDwarfism PituitaryRetrospective StudiesHomeodomain Proteinsbusiness.industrymedicine.diseaseMagnetic Resonance ImagingBody HeightEndocrinologyChild PreschoolPituitary GlandPediatrics Perinatology and Child HealthPituitary hormonesDisease ProgressionFemalebusinessTranscription Factor Pit-1Mri findingsJournal of pediatric endocrinologymetabolism : JPEM
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Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: Phenotypic variability and founder …

2004

WOS: 000223072400081 PubMed ID: 15292359 Isolated TSH deficiency is a rare cause of congenital hypothyroidism. We here report four children from two consanguineous Turkish families with isolated TSH deficiency. Affected children who were screened at newborn age had an unremarkable TSH result and a low serum TSH level at diagnosis. Age at diagnosis and clinical phenotype were variable. All affected children carried an identical homozygous splice site mutation (IVS2 + 5 Gdouble right arrowA) in the TSHbeta gene. This mutation leads to skipping of exon 2 and a loss of the translational start codon without ability to produce a TSH-like protein. However, using specific monoclonal antibodies, we …

Malemedicine.medical_specialtyendocrine systemGuanineendocrine system diseasesEndocrinology Diabetes and MetabolismClinical BiochemistryThyrotropinLocus (genetics)Thyrotropin beta SubunitBiologyBiochemistryExonEndocrinologyHypothyroidismInternal medicinemedicineCongenital HypothyroidismHumansChildGeneGenotypingGeneticsSplice site mutationAdenineBiochemistry (medical)HaplotypeHomozygoteInfant NewbornInfantmedicine.diseaseFounder EffectIntronsCongenital hypothyroidismPedigreeEndocrinologyPhenotypeHaplotypesChild PreschoolMutationFemalehormones hormone substitutes and hormone antagonistsFounder effect
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