ESPE Abstracts

Background: The renal cysts and diabetes (RCAD) syndrome caused by defects in the HNF1B is characterized by a broad spectrum of clinical features. While heterozygous point mutations are relatively rare, we focused on gross deletions of the HNF1B that are determined by multiplex ligation probe-dependent amplification (MLPA). Rather importantly, the deletions most often extend beyond the single HNF1B, thus more deleted genes may participate in the clin...

Background: Extensive and time-consuming hormonal and genetic work-up provides a genetic diagnosis in around 20% of 46,XY cases with ambiguous genitalia. It is currently unclear if such extensive screening might also be indicated in 46,XY newborns with milder undervirilization.Method: All 46,XY neonates and infants (n=32, EMS 2–12) referred to our pediatric endocrine service for atypical male genitalia in the period 2007–2013 were inve...

Background: Terminal Xp-deletion causes a variant of Turner syndrome (TS). Several studies described the associated phenotype: gonadal function is generally preserved and short stature is the major clinical feature.Case presentation: We present a family with vertical transmission of TS affecting six women in four subsequent generations. SNP-array indicates that the chromosomal aberration in this family includes terminal Xp-deletion and terminal Xq-duplic...

Background: Recently, T3 receptor alpha (TRα) mutations have been identified in a number of patients with varying degrees of growth impairment, delayed development, constipation, increases in serum T3 and decreases in T4 and rT3.Objective: To determine the spectrum of clinical and functional consequences of novel TRα mutations.Method: Clinical assessment and biochemical, imaging...

Background: Since the initiation of neonatal screening-programs for congenital hypothyroidism (CH) in the 1970’s, an increase in the incidence of CH has been observed. This change has been attributed to the gradual use of lower TSH cut-offs that lead to the detection of milder cases of CH. Based on currently used screening cut-offs, CH occurs in approximately 1:2 000 to 1:4 000 newborns, varying by geographic location and ethnicity. A female predominance, approaching a 2:...

Background: PHA1 is a rare inherited disease characterized by resistance to aldosterone action and distinguished in two forms: the autosomal dominant renal form caused by mutations of the NR3C2 gene (MR) and the autosomal recessive systemic form caused by mutations of the subunit genes SCNN1A, SCNN1B, SCNN1G of the epithelial sodium channel (ENaC). The classic phenotype of the autosomal recessive form of PHA1 is usually severe, lifelong, and expressed with mu...

Background: As a curative therapy, haematopoietic stem cells transplantation (HSCT) has been also used for patients with non-neoplastic diseases such as aplastic anemia, primary immunodeficiency, and some congenital metabolic diseases. For these diseases, the intensity of the conditioning has been reduced comparing to that of malignancy diseases. Therefore, late effects of HSCT for non-neoplastic diseases has been expected to be milder than that for neoplastic diseases, howeve...

Background: Juvenile Paget’s disease is a rare autosomal recessive osteopathy. Patients presenting in infancy develop severe bone deformities and may never walk. Bisphosphonate therapy is used to decrease bone turnover and it has generally good responses in milder forms of the disease. However there is no long-term experience of bisphosphonates in severe infantile forms.Case report: A 9 month-old boy was referred to our clinic for bone deformities. ...

Background: MEHMO (microcephaly, epilepsy, hypogenitalism, mental retardation, obesity) is a rare disorder with X-linked inheritance. Only three families with this disorder were described previously, with the linkage to a region on X chromosome. No specific gene has been identified so far.Aims and objectives: The aim was to identify the genetic etiology in two unrelated Slovak male probands (4.5 and 1.5 years old respectively) with the clinical diagnosis...

Background: Hereditary vitamin D resistant rickets (HVDRR) or vitamin-D dependent rickets type II is an autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene, causing end-organ resistance to the action of 1,25-dihydroxyvitamin D (calcitriol), thus resulting in the distinct characteristics of early-onset rickets, hypocalcemia, and secondary hyperparathyroidism. The currently accepted treatment modality is bypassing the affected r...