ESPE Abstracts

Background: Ten percent of children born small for gestational age fail to catch-up and remain short during childhood (SGA-SS). Several genes causing SGA-SS have been described, however, in most cases, the mechanisms of prenatal and postnatal growth impairment remain unknown.Aim: To decipher genetic etiologies within a large single-center cohort of SGA-SS children in order to better understand the pathophysiological mech...

"Steroidogenic Factor-1" (SF-1); It is encoded by the NR5A1 gene in 9q 33.3 and regulates the transcription of genes involved in steroidogenesis. It is reported that 46 of the variants in this gene constitute 10-20% of XY sex development disorders (DSD). The patient admitted because of a swelling in the left groin at one month old. She was raised as female. Uterus was 12x2.5 mm in ultrasonography and the gonad in the inguinal region was evaluated as testis. She was P...

Background: Congenital hypothyroidism (CH) is an inborn disease with an incidence rate of 1 case per 3,600 newborns of which 15-20% cases are associated with thyroid dyshormonogenesis. The TPO gene encodes thyroid peroxidase. Disease associated with this gene is usually transmitted in an autosomal recessive mode. Hypothyroidism-associated TPO variants are usually biallelic, limited evidence for cases in patients with heterozygous variants exists.Method...

Background: Mutations in the imprinted gene MKRN3 have been associated with inherited central precocious puberty (CPP). MKRN3 is a maternal imprinted gene and the disease is exclusively paternally transmitted in an autosomal dominant manner. Although the mechanism is unclear, it has been suggested that MKRN3 inhibits hypothalamic GnRH release, leading to a loss-of-function mutation and CPP. To date, more than 20 MKRN3mutations have b...

Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis through the activation of the gonadotropin releasing hormone (GnRH). Gain-of-function mutations of the KISS1 and KISS1R genes or loss-of-function mutations of the makorin RING-finger protein 3 (MKRN3) have been linked with CPP. Moreover intronic and intragenic variants harbouring the imprinted loci of MKRN3-MAGEL2 and DLK1 g...

Background: 4p duplication syndrome is a very rare chromosomal disorder. In the literature; dysmorphic facial features, learning disability, speech retardation, overgrowth, musculoskeletal abnormalities, attention deficit hyperactivity disorder and autism syndrome have been reported to be associated with 4p16.3 duplication. Here we present a patient who admitted to our clinic with complaints of growth in hands and feet along with delayed speech and mental retardation. The gene...

Background: Central precocious puberty (CPP) is often familial but its genetic cause is largely unknown. Very recently, the makorin RING finger protein 3 (MKRN3) gene has been found mutated for the first time in 5 families with familial precocious puberty. The inheritance pattern is particular being the MKRN3 a maternal imprinted gene. Moreover in a recent genome wide association study common intronic or intragenic variants harbouring this gene and other two imprinted genes, D...

Background: Initiation and progression of puberty requires concerted action of activating and inhibiting factors. Recently, cases of central precocious puberty have been linked to loss-of-function mutations of makorin RING-finger protein 3 (MKRN3) indicating a pivotal inhibitory role of MKRN3 on GnRH secretion.Objective and hypotheses: To investigate peripubertal circulating MKRN3 levels in healthy boys.Method: Healthy boys (n<...

Background: The GATA family of zinc finger transcription factors including GATA4 and GATA6 are known to play an important role in the development of the pancreas.Aim: The aim of this case-report study is to present a patient with GATA6 mutation treated in Clinic of Pediatric, Diabetology and Endocrinology, Medical University of Gdansk.Case report: Child was born prematurely in 36th week of pregnancy with birth weight of 1520 g, wit...

Background: The frequency of makorin RING-finger protein 3 gene (MKRN3) mutations in Finnish patients with precocious puberty (PP) is not known. As a first step to investigate this, we describe the diagnoses underlying PP in a single academic center.Objective and hypotheses: To review the diagnoses in children who were presented with signs of PP (adrenarche excluded) at the Helsinki University Hospital, with a special emphasis on the identification of fa...