ESPE Abstracts

Background: Growth standards are important tools in the monitoring of growth. In 2006 the World Health Organization (WHO) published new growth charts based on infants and young children living in optimal conditions in six countries and proposed that these and the NCHS data on North American children be accepted as standards for children in all countries throughout the world. Studies comparing country specific standards with WHO growth charts are therefore necessary.<p clas...

Introduction: Loss-of-function mutations in genomically imprinted MKRN3 and DLK1 genes cause familial central precocious puberty (CPP) and may result in low serum concentrations of these proteins. This study aimed to evaluate the predictive value of serum MKRN3 and DLK1 concentrations for detecting variants in related genes.Material-Method: This retrospective study included 26 girls with CPP, of which 11 were receiving G...

Background: Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. Although several genetic abnormalities have been discovered through genetic analyses, the underlying genetic causes of 46, XY DSD remain unknown in most of the casesAim: To identify genetic defects in patients with 46,XY DSD.Material and Methods: A total 76 DSD patie...

Context: There is a limited data from large cohorts regarding pubertal characteristics of children with classical 21-hydroxylase deficiency(21OHD).Objective: To explore the timing and tempo of puberty, and pubertal height gain(PHG) in children with 21OHD-CAH.Design: A multicenter observational, retrospective, longitudinal analysis.Patients: D...

Background: 3-M syndrome is an autosomal recessive growth disorder characterised by severe prenatal and postnatal growth retardation caused by mutations in CUL7,OBSL1 or CCDC8.Clinical characteristics include dysmorphic facial features and skeletal abnormalities.Aim: Evaluation of clinical and molecular findings and the effect of growth hormone (GH) threrapy in seven patients with 3-M syndrome from five different familie...

Background/Aim: Gender identity disorder (GID) is a condition, which is characterized by incongruence between experienced gender and the natal-sex, which also causes deterioration of functionality. After psychiatric evaluations, medical treatment for adolescents with GID consists of 3 phases. First phase is the suppression of puberty with GnRH-analogues, which may be considered to be supporting the diagnostic process. In the second phase, cross-sex steroid hor...

Background: Osteoporosis-pseudoglioma syndrome (OPPG), rare autosomal recessive entity, is characterized by juvenile osteoporosis, bone deformities, neuromotor retardation, and congenital blindness. This syndrome is due to the loss-of-function mutation in LRP5 (Low-density lipoprotein receptor-related protein 5). Here report four cases from three families, with confirmed molecular diagnosis who showed improvement of osteoporosis improved with biphosphonate therapy.<p class...

Background: Disorders of sex development (DSD) are a heterogeneous group of disorders related to sex determination and differentiation. Although several genetic abnormalities have been discovered through genetic analyses, the underlying genetic causes of 30–40% of the 46,XY DSD cases are not yet known.Aim: To identify genetic defects in patients with 46,XY DSD.Material and methods: Seventy-six patients with 46,XY DSD were stud...

Background: Desert Hedgehog (DHH) gene acts on early testicu-lar development, testis cord formation and differentiation of fetal Leydig cells. It also has a role in nerve sheath formation. DHH gene mu-tations is a very rare cause of 46,XY gonadal dysgenesis (GD). Gonadal tumors and peripheral neuropathy have been associated with DHH mutations.Aim: To present three patients with 46,XY GD due to novel homozygous DHH muta...

Background: 17β-Hydroxysteroid Dehydrogenase3 (17b-HSD3) deficiency is a rare autosomal recessive disorder, caused by a mutation of the HSD17B3 gene. The phenotypic spectrum ranges from normal-appearing female external genitalia to microphallus with hypospadias and variable degrees of genital ambiguity. 17b-HSD3 deficiency phenotype is variable, leading to misdiagnosis especially with partial androgen insensitivity syndrome and 5alfa reductase deficiency.<p c...