ESPE Abstracts

Keywords: Gender Dysphoria/ İncongruence, child and adolescent, attitudes toward transgendered individualsObjective: To investigate physicians' knowledge and attitudes evaluating children and adolescents with gender dysphoria/incongruence (GD/GI) concerning care and treatment.Materials and Methods: A questionnaire targeting the knowledge and experiences of physicians and ...

Introduction: The most common cause of elevated TSH is iodine deficiency, and other common causes are drug use, systemic diseases, and underlying genetic conditions.Objective: We aimed to investigate molecular genetic etiology, genotype-phenotype relationships and the follow-up data in cases with elevated TSH initiated on L-thyroxine treatmentMethods: We retrospectively evaluated c...

Introduction: CAH is a common clinical condition with treatment and follow-up challenges. As a result, the adult height of the cases is known to be affected. We aimed to assess the growth and pubertal development of CAH patients and the factors that influence final height.Method: Between 1980-2022, 41 patients diagnosed with CAH were observed at our clinic. Only cases that attained the final height were retrospectively a...

Background: Genetic factors play an important key role in regulating the timing of puberty. The premature activation of pulsatile release of gonadotropin-releasing hormone(GnRH) before 8 and 9 years of age in girls and boys causes central precocious puberty(CPP). Pathogenic variants in DLK1 are associated with isolated familial CPP. Here, we report three siblings with a diagnosis of CPP with novel variant in DLK1.Case Report:</st...

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...

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...