ESPE Abstracts

Introduction: Neonatal screening has undoubtedly proved its worth in detecting cases of congenital hypothyroidism at an early stage. If there are several affected individuals in a family, this should be a reason to consider a hereditary form and to initiate molecular genetic testing.Case descriptions: the firstborn sister (15 yrs) presented with grossly elevated TSH of 223 mU/ml in neonatal screening and with congenital ...

The Loeys-Dietz-Syndrome is a connective tissue disease, which belongs to the group of Marfanoid syndromes. LDS is classified into 6 different subtypes according to the underlying mutation. All mutations are autosomal dominant inherited. Patients with Loeys-Dietz-Syndromes are characterized from cardiovascular and skeletal malformations, like aneurysms of aorta and other arteries, pectus excavatum, pectus carinatum, chicken- or funnel breast, arachnodactyly clubfoot, scoliosis...

Background: Low birth-weight and unfavourable intrauterine conditions are associated with a subsequent impact on the endocrine system. Many studies reported hyperandrogenaemia and precocious adrenarche in children born small for gestational age (SGA). However, little information is available on steroid profiles in these subjects.Objective and Hypotheses: We followed genetically identical twins with intra-twin birth-weigh...

Background: Biallelic mutations of the CYP11B2 aldosterone synthase gene cause deficiency of aldosterone synthesis. Patients exhibit isolated deficiency of aldosterone biosynthesis, increased plasma renin activity, increased steroid precursors desoxycorticosterone, corticosterone, as well as 18-hydroxy-desoxycorticosterone, and show salt wasting and poor growth. The aldosterone synthase enzyme has 18-hydroxylase (corticosterone methyloxidase type I, CMO I) and 18-oxidase (CMO ...

Background: Serum dihydrotestosterone (DHT) is an important analyte for the clinical assessment of disorders of sex development. It is also reportedly a difficult analyte to measure. Currently there are significant gaps in the standardisation of this analyte, including no external quality assurance (EQA) program available worldwide to allow for peer performance review of DHT.Objective and hypotheses: We therefore proposed to establish an EQA program for ...

Background: Male preterm infants are at increased risk of neonatal mortality when compared to their female counterparts. The mechanisms explaining this male disadvantage are not fully elucidated yet.Objective and hypotheses: To compare glucocorticoid metabolite excretion in urine obtained at day 10 between male and female infants born with a very low birth weight (VLBW; i.e. <1500 g). We hypothesized that male preterm infants have impaired adrenocort...

Introduction: ACTs comprise adenomas (ACAs) and carcinomas (ACCs), the latter having a poor prognosis. In children, ACTs are functional and thus symptomatic. We investigated whether GC-MS urinary steroid metabotyping can detect tumors and differentiate between adenomas and carcinomas.Method: We investigated 46 patients (median 6.9; range 0.7-17 yrs; 36 females) with ACTs from the GPOH-MET Study (Registry of the German So...

Preliminary results:Objective: Although low birthweight (bw) and unfavourable intrauterine conditions have been associated with metabolic sequelae in later life, little is known about their impact on steroid metabolism. We studied genetically identical twins with intra-twin bw-differences from birth to adolescence to analyse the long-term impact of bw on steroid metabolism.Methods:...

Background: P450 oxidoreductase (POR) mutations can present with disordered sexual development (46,XX virilisation as well as 46,XY under-masculinisation), perturbed steroidogenesis and mild to severe skeletal malformations. As POR is an obligate electron donating cofactor to many P450s, and as this interaction may vary from partner to partner, the phenotypic spectrum of PORD is extremely broad. Therefore, to characterize novel POR mutations, specific testing is required.<...

Here, we report on a female adolescent with overweight and a very high DHEAS serum level. The hypothesis that the origin of DHEAS excess was the presence of either an ovarian or a suprarenal DHEAS-producing tumor was not confirmed. Sonographic and MRT investigations did not support its presence. In addition, effective dexamethasone suppression of DHEA and DHEAS excluded this diagnosis. Steroid sulfatase (STS) hydrolyses alkyl and aryl steroid sulfates to their unconjugated for...