ESPE Abstracts

Background: Short stature is the most common presenting symptom in Turner Syndrome (TS). GH treatment helps alleviating short stature in TS, although response to treatment varies significantly.Objective and hypotheses: We aimed to evaluate the response to GH treatment and factors affecting this response in children with TS.Method: Forty-nine patients with TS diagnosed by cytogenetic analysis and who had been followed minimum of 1-y...

Background: The studies investigating kisspeptin levels in the neonatal period is very limited.Objective and hypotheses: This study was intended to investigate plasma kisspeptin hormone levels in newborns with or without breast growth.Method: This prospective study was performed to determine plasma hormone levels of kisspeptin in patients admitted to the Erzurum Ataturk University Faculty of Medicine Research and Educational Hospit...

Background: DNAJC3 is an endoplasmic reticulum (ER) co-chaperone involved in folding/processing of secretory and transmembrane proteins. The defect in the ER co-chaperone proteins impairs adaptive ER responses and leads to apoptosis, impairment of organ function with multisystemic involvement. Biallelic mutations in the DNAJC3, described in a limited number of cases cause multiple endocrine dysfunction and neurodegeneration of nervous system.<p cl...

Background: Premature adrenarche (PA) is defined as the appearance of pubic and/or axillary hair in girls younger than 8 years old and caused by the rise in adrenal androgen production including dehydroepiandrosterone (DHEA), dehydroepiandrosterone sulfate (DHEAS), and androstenedione (A4). DHEAS≥40 µg/dL is accepted as the biochemical marker of adrenarche. However, adrenals also produce 11-oxygenated C19 androgens such as 11β-hydroxyandrostene...

Background: DEAH-box protein DHX37, encodes an RNA helicase, is involved in ribosome biogenesis. Monoallelic mutations in DHX37 gene have recently been identified in 46,XY differences/disorders of sex development (DSD) patients with nonsyndromic gonadal dysgenesis as well as testicular regression, while biallelic mutations have been associated with microcephaly and structural brain abnormalities. Here, we present a patient with penoscrotal hypospadias and bil...

Objective: Histones have important structural and regulatory roles mediating the dynamic packaging of DNA. The dysregulation of histone modification leads to overgrowth syndromes, such as Sotos and Weaver syndrome. Recently heterozygous variants in HIST1H1E, which encodes linker histone H 1.4 has been associated with Rahman Syndrome, which is characterized by a very rare complex phenotype consisting of overgrowth, dysmorphism, and intellectual disabil...

Background: Congenital hypopituitarism (CH) refers to a deficiency of one or more pituitary hormones resulting from variants in genes encoding transcription factors for pituitary development. CH cases are mostly sporadic but 5-30% can be familial. Genetic etiology is not determined in most cases. The aim of our study was to evaluate the genetic features of CH using different molecular and/or molecular cytogenetic techniques.Subje...

Background: Obesity is a multifactorial disease caused by environmental and genetic factors. Single gene defects explain approximately 5-13% of early-onset obesity and these rates vary according to genetic panel used and the rate of consanguinity in the population studied. As the new treatment modalities emerge for monogenic obesity, it is important to identify the molecular etiology of obesity.Materials and Methods: Buc...

Introduction: Marfan syndrome is an autosomal dominant disorder due to a mutation of the FBN1 gene of chromosome 15 that produces fibrillin, a connective tissue protein. Tall stature can be of a major concern especially in a girl patient. Here we discuss a case of a 13-year-old girl with MFS with tall stature and multiple associated comorbidities that pose challenges in her management for the whole family.Case Report: A ...

Background: Low-dose adrenocorticotropic hormone stimulation test (LDST) is widely used to assess patients for adrenal insufficiency. However, the predictive power of basal cortisol for the performance of LDST is not clear.Objective: To determine the appropriate basal serum cortisol cutt-off values that predict a positive or negative LDST.Design: A single-centre retrospective study...