ESPE Abstracts

Background: Primary hypothyroidism is frequently associated with delayed puberty. However, precocious puberty is known to occur in some rare cases of hypothyroidism untreated for a long time. Differently from the cases suffering from precocious puberty due to other causes, linear growth and bone age are retarded in children developing precocious puberty associated with hypothyroidism. There are no definite data about the incidence of precocious puberty associated with hypothyr...

Background: Hypophosphatemic rickets is a clinical picture with inadequate bone mineralization that develops following renal phosphate loss. One of the most common complications in this group of patients is nephrocalcinosis. However, the mechanisms causing nephrocalcinosis are not clear.Objective and hypotheses: The aim of our study was to define the risk factors affecting the development of nephrocalcinosis, which is reported to be seen at a rate of 50%...

Background: The GnRH analoques have been used to treat many diverse reproductive system disorders, including precocious puberty.Objective and hypotheses: The present study aims to investigate the effects of GnRH analogue (GnRHa) treatment on internal genitales of girls with central precocious puberty (CPP).Method: The study included 40 girls who were diagnosed as CPP and treated with GnRH analogue (leuprolide acetate, Lucrin depot<...

Background: H syndrome (OMIM #602783) is an autosomal recessive syndrome resulted from mutations in the SLC29A3 gene, encoding hENT3 protein. Characteristic findings are cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hypogonadism, hyperglycemia/diabetes mellitus, cardiac anomalies, hallux valgus and short stature. Herein we report a girl with multiple endocrinopathies due to H syndrome.Case: Ten year and 5 month old girl was referred be...

Objective: This study aims to reveal clinical, hormonal and ultrasound imaging features of patients treated with leuprolide acetate for diagnosis of precoccious puberty.Design: Retrospective analysis of patients with a diagnosis of central precoccious puberty and treated with leuprolide acetate between January 2008 and January 2013.Patients: 81 girls and two boys with early signs of puberty.Results: There was...

Background: 17β-Hydroxysteroid dehyrogenase type 3 (17βHSD-3) deficiency is an autosomal recessive form of 46,XY disorder of sex development (DSD). 17βHSD-3 is present almost exclusively in the testes and converts androstenedione to testosterone. The diagnosis can be easily missed in early childhood as the clinical presentation may be subtle. The most frequent presentation of 17βHSD-3 deficiency is a 46,XY individual with female external genitalia, labial f...

Background: Congenital hypothyroidism (CH) is divided into two main groups as ‘permanent’ and ‘transient’. Diagnosis of transient hypothyroidism is important to avoid lifelong unnecessary therapy with its possible side effects.Objective and hypotheses: We aimed to determine the rate of transient and permanent congenital hypothyroidism of the newborns referred to our clinic from the neonatal screening program in this study.</st...

Background: Various studies, mostly conducted in adults, evaluated the hormonal axis in primary empty sella (PES), and reported different forms of pituitary deficiencies. We report our 10-year experience of pediatric cases with PES, investigating the pituitary function, associated impairments, and responses to treatments.Materials and Methods: We reviewed 10,560 cranial and 325 pituitary magnetic resonance imagings (MRIs) performed in ou...

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: Metaphyseal dysplasia, Spahr type(MDST) is an autosomal recessive primary skeletal dysplasia characterized by postnatal short stature, progressive bowing deformity, waddling gait, with an incidence of <1/1 million. MDST is caused by mutations in Matrix metallopeptidase 13(MMP13) gene. The MMP13 plays a role in the degradation of extracellular matrix proteins. It is required for embryonic bone development and ossification. It may be involved in...