ESPE Abstracts

Background: Immunoglobulin superfamily, member 1 (IGSF1) was originally proposed to function as an inhibin co-receptor in pituitary gonadotroph cells. More recently, however, loss of function mutations in the human IGSF1 gene were linked to a novel syndrome of central hypothyroidism, testicular enlargement, and variable prolactin-deficiency. Igsf1-deficient mice are also centrally hypothyroid, with reduced pituitary thyrotropin-releasing hormone receptor (<em...

Background: Heterozygous mutations in the Aggrecan gene (ACAN) cause autosomal dominant short stature with bone age (BA) acceleration, and premature growth cessation.Objective and methods: To characterize the phenotypic spectrum, associated conditions and describe response to growth-promoting therapies, detailed clinical evaluation of 73 mutation positive individuals from 16 families different families with heterozygous ACAN mutations was perfor...

Background: Childhood NT1 has been associated with endocrine disorders like obesity and precocious puberty. These comorbidities may challenge the diagnosis, require tailored treatments and call for a multidisciplinary approach.Objective and hypotheses: To evaluate the impact of type 1 narcolepsy (NT1) on anthropometric and endocrine features in childhood/adolescence, focusing on weight, pubertal development and growth, and their follow up in treated and ...

Introduction: Differences of sex development (DSD) encompass a variety of conditions with atypical development of chromosomal, gonadal or anatomic sex. 46, XX ovotesticular (OT) DSD is a rare condition, in which the presence of testicular and ovarian tissues is identified in the same individual. These patients present variable phenotypes with a wide spectrum of atypical genitalia and their sex assignment can be male or female. Short stature is a frequent issue...

Neonatal screening tests are used for the screening of genetic, endocrine and metabolic diseases. Preterm newborns have a higher false-positive and false-negative results in neonatal screening. The objective of this study was to estimate the prevalence of false-positive and false-negative results in the neonatal screening tests for phenylketonuria, congenital hypothyroidism, biotinidase deficiency and congenital adrenal hyperplasia (CAH) in preterm newborns in Curitiba, to ana...

Case Report: A preterm boy was born at 35 weeks gestational age by cesarean section due to fetal macrossomia and polyhydramnios, weight 4980g (4.3 SDS, Intergrowth 21st), length 53cm (3.1 SDS), 1-min-Apgar 2. He needed resuscitation after birth, and his glycemia was 20 mg/dL. At the Neonatal Intensive Care Unit (NICU), he presented with severe hypoglycemia (10mg/dL) and required intravenous glucose infusion rate (GIR) 10mg/kg/min that increased progressively u...

Background: Short stature is one of the most common presentations to paediatric endocrinologists. It is estimated that despite all the exams, in 50–90% of cases, children are labeled as having idiopathic short stature. It has been recently reported that genetic ACE2 deficiency is associated with reduced body weight as well as with impaired gestational weight gain and fetal growth restriction in pregnancy. It has been argued that ACE2 deficiency, which...

Background: Autoimmune polyglandular syndromes (APS) is a group of heterogeneous conditions characterized by the association of at least two organ-specific disorders, concerning both endocrine and non-endocrine organs. On the basis of the clinical features, they are divided into four main types. Type III is defined as the combination of autoimmune thyroid disease and other autoimmune condition – divided into subtypes A, B and C.Objective and hypothe...

Background: Estrogen insensitivity syndrome is a form of functional estrogen deficiency which is caused by a defect in the estrogen receptor type α (ESR1). As a result of the receptor mutation, estrogens cannot be recognized and hence initiate their biological action on pubertal growth, skeletal maturation, and accrual of bone mass. A mutation in the gene encoding ESR1 has been described in only 2 cases (one man and one woman). We now describe the first family with ESR1 m...

Background: GH treatment in childhood is proven to increase adult final height in many indications. In Lebanon, no other study was done to evaluate the response to GH treatment.Objective and hypotheses: Identify the prevalence of each indication and evaluate the annual response to treatment based on growth velocity, bone age (BA), bone age on height age (BA/HA) and bone age on chronological age (BA/CA).Method: The population is 50 ...