ESPE Abstracts

Background: Aromatase excess syndrome (AEXS) (OMIM 139300) is a rare condition characterized with gynecomastia in boys and macromastia in girls. Estrogen excess in boys can lead to prepubertal and pubertal gynecomastia, bone age progression and short adult stature. While most of girls are usually asymptomatic, there are few reported female patients with excessive breast growth, early puberty, menstrual irregularities, and short adult stature. Male and female children with AEXS...

Background: Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency (11OHD), a rare autosomal recessive disorder, is the second most common form of CAH, resulting in glucocorticoid deficiency, hyperandrogenism and hypertension.Objective and hypotheses: To investigate the specific CAH mutations in CYP11B1 gene and to examine for genotype-phenotype correlations.Method: 21 patients (n=9, 46, XX; <...

Background: In 2012, a phenomenon of early isolated gonadotropin-independent thelarche among contemporary girls was reported.Objective and hypotheses: We wanted to evaluate whether a contemporary isolated early pubarche also exists. One way of looking into this is by investigating the age of pubarche in a group of girls with premature pubarche (PP) over time. If some girls had earlier pubarche, then, we would expect a subgroup (i.e. those younger than 8 ...

Background: Thyroid nodules are less common in childhood but it has higher risk of malignancy. In this study, we aimed to evaluate children and adolescents with thyroid nodules, clinically, radiologically and histopathologically to determine etiologic distrubution.Method: Seventy-one patients (46 females) with the mean age of 10.41±5.03 (0.04–21) years with thyroid nodules were involved in this study. Patients were evaluated by their complaints...

Objective: The aim of this study was to evaluate demographic characteristics; clinical, laboratory, imaging features; and response to treatment of boys who were followed up and treated with the diagnosis of central precocious puberty (CPP) in Turkiye.Materials and Methods: The study was planned as a multicenter, retrospective study. Cases with a diagnosis of CPP, whose follow-up data were available were included. Patient...

Background: Papillary thyroid cancer (PTC) constitutes more than 90% of the thyroid cancer in children. PTC behaves differently in prepubertal children than in pubertal children and between children and adults. BRAF gene activating mutations lead to PTC by creating aberrant activation. The most common mutation is BRAFV600E.Objective and hypotheses: To evaluate clinicopathological characteristics of PTC patients with emphasis on the pubertal st...

Background: 45,X/46,XY mosaicism is associated with a broad spectrum of phenotypes, ranging from ambiguous genitalia at birth to patients with a completely male or female phenotype. Turner syndrome stigmata and associated anomalies could be found in these patients.Objective and hypotheses: To evaluate clinical presenting symptom and follow-up data of 30 patients with 45,X/46,XY karyotype.Method: Thirty patients with 45,X/46,XY mosa...

Background: Approximately 10-15% of small for gestational age (SGA) newborns are at risk of having subnormal growth and persistent short stature. It is postulated that a large amount of persistent short stature results from genetic abnormalities, which are commonly characterized by dysmorphic features and developmental disorders.Aim: To uncover the genetic etiology of syndromic short stature children born SGA.<p clas...

Background: Rokineticin receptors (PROKR1 and PROKR2) belong to the family of G protein-coupled receptors. Bi-or mono allelic mutations in PROKR2 gene have been identified in Kallmann syndrome which is characterized by hypogonadotropic hypogonadism and anosmia/hyposmia. Recently, PROKR2 mutations were reported in patients with multiple pituitary hormone (MPHD) and growth hormone deficiencies (GHD), suggesting a potential role for the PROK2 p...

Introduction: In children receiving growth hormone (GH) therapy during puberty, epiphyseal fusion due to sex steroids often limits the height gain. Aromatase inhibitors may seem to help at this point despite the lack of evidence. Herein, it was aimed to investigate the efficacy of anastrozole for add-on treatment in pubertal male patients receiving GH therapy.Methods: This is a retrospective study comparing two groups of...