ESPE Abstracts

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: 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...

Background: There exists limited data regarding genetic etiology of hypophosphatemic rickets in Turkey.Objective and hypotheses: To investigate the type of genetic defect in 16 index children and their families (12 unrelated, 1 related).Method: Following clinical and laboratory assessment, PHEX analysis was made initially unless a mutation in another gene was suspected. If negative, FGF23, SLC34A3, SL...

Background: Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency is the second most common form of CAH, resulting from a mutation in the CYP11B1 gene. Steroid 11β-hydroxylase deficiency results in excessive mineralcorticoids and androgen production leading to hypertension, virilisation, and ambiguous genitalia of genetically female infants.Objective: The aim of the study was to identify the molecular detect ca...

Background: The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this gene cause a rare autosomal recessive disorder, vitamin D-dependent rickets type 1A.Objective and hypotheses: To investigate CYP27B1 mutations in children when rickets was associated with normal or high vitamin D levels and low or inappropriately normal calcitriol levels.Method: All coding exons and intron-exon boundari...

Introduction: Growth hormone (GH) treatment is used to accelerate growth in patients with Turner syndrome (TS). During treatment, evaluation of IGF-1 is strongly recommended for efficacy and safety. Some patients, despite optimum GH doses, have persistent high IGF-1 levels. In this study, we aimed to evaluate the relationship between IGF-1 levels, IGF1R and growth responses of TS patients on GH treatment.Method: 54 patie...

Introduction: The frequency of solid and hematological malignancies has been reported to be higher in children with Turner syndrome than in the general population. Mycosis fungoides (MF) represent the most common type of cutaneous T-cell lymphoma, which is a low-grade lymphoproliferative disease. To the best of our knowledge, the coexistence of Turner syndrome and MF has not yet been reported. Here, we report a girl with Turner syndrome and MF.<p class="ab...

Introduction: Congenital Adrenal Hyperplasia (CAH) is a chronic disease that requires life-long hormonal replacement therapy. Growth of patients with CAH can be affected by this therapy or the hyperandrogenic effect of the disease. In this study, we aimed to assess the potential effect of CAH and its therapy on final height in Saudi affected patients.Methodology: This is a retrospective cohort study from two tertiary end...

Introduction: 5α-reductase type 2 deficiency (5α--RD) and 17β-HSD type 3 deficiency (17β-HSDD) are rare differences/disorders of sex development (DSD) in which impairment of steroidogenic enzymes causes undervirilisation in patients with a 46,XY genotype. We aim to enlarge the limited knowledge on long-term gonadal function and gonadal pathology in these conditions.Methods: Data on phenotype, laborato...