ESPE Abstracts

Introduction: Aromatase deficiency is a rare cause of autosomal recessive 46, XX disorders of sex development (DSD) due to CYP19A1 gene mutations. The affected patients cannot have a normal estrogen biosynthesis. It is characterized by low serum estrogen, increased gonadotropins, and ovarian cysts. Herein, we report a new case with aromatase deficiency.Case Report: A 1-month-old girl was referred due to cliterom...

Aim: To identify the distinctive features of GH Deficiency (GHD) and to assess the response to GH treatment (rhGH) in children with Septo-Optic-dysplasia (SOD) and Multiple Pituitary Hormone Deficiencies (MPHD).Methods: Retrospective longitudinal single centre study of children with SOD (n:171) and MPHD (n:53). GHD was diagnosed in patients with growth failure by an insufficient GH response (≤6.7 μg/l) to provocation (Insulin Induced Hypoglyca...

Introduction: Growth retardation as clinical manifestation among children with acquired hypothyroidism is observed later in the course of the illness. Thyroid hormones along with insulin like growth factors (IGF) have important role in somatic and skeletal growth. Studies addressing role of IGF’s towards growth retardation in children with acquired hypothyroidism are limited.Objective: To evaluate effect of Insulin like growth factors in children wi...

Background: GH treatment has been used for the last 30 years for children with short stature with varying individual responses.Objective: Analysis of final height SDS (standard deviation score) and the factors influencing it in children treated with growth hormone.Material and methods: Subjects across Wales who received GH treatment, part supervised by tertiary center staff and reached final height while on treatment, were identifi...

Introduction: Of any pituitary dysfunction following brain injury, growth hormone (GH) deficiency (GHD) is the most prevalent. The cut-point for defining GHD has been placed at 7 ng/mL representing optimum test performance. We hypothesised this cut-off may be set too low for genetically taller children with acquired brain injury, notably brain tumours, who demonstrate severe growth failure but repeatedly fail to meet diagnostic thresholds for GH replacement until several centi...

Introduction: Congenital Hypothyroidism if not treated timely presents with growth & developmental delay. Thyroid hormones and Growth hormone- Insulin like growth factor 1 axis (GH-IGF-1) together are critical for somatic and skeletal growth. Hypothyroidism and derangement in this axis leads to profound growth retardation and delayed skeletal maturation. Limited studies suggest that thyroxine directly regulates IGF-1 independent of GH in congenital hypothyroidism.<p cl...

Background: Children with septo-optic dysplasia (SOD) and related disorders can present with either hypogonadotropic hypogonadism or precocious puberty. This phenotypic variability remains unexplained.Objective and hypotheses: To compare pubertal characteristics of SOD with isolated congenital hypopituitarism (CPHD) and optic nerve hypoplasia (ONH).Method: Retrospective longitudinal data collection from 259 patients with: SOD (...

Introduction: Septo-optic dysplasia (SOD) is characterized by a combination of midline forebrain, pituitary and eye abnormalities. We aimed to evaluate endocrine features of patients with SOD, and multiple pituitary hormone deficiencies (MPHD).Design: Retrospective data were collected from 130 patients: 102 SOD and 28 MPHD followed at a single tertiary centre. SOD were divided into two groups: with pituitary hormone deficiencies (SOD+, n=83) and...

Background: Third generation aromatase inhibitors have been used to increase predicted adult height (PAH) in boys but in girls only in McCune–Albright syndrome.Objective and hypotheses: We overcame the theoretical concern of secondary hyperandrogenism by combining anastrazole to an LHRH analogue in a 6-year prospective study to test whether the combination therapy could significantly improve PAH compared to inhibition of puberty alone.<p class="...

Background: Strong association of early postnatal catchup growth in SGA with higher leptin levels and increased risk of insulin resistance has been described.Objective: To determine leptin levels in term small for gestational age (SGA) children at 15–18 months age and assess their relationship with postnatal catchup growth (CUG).Methods: Birth and current weight and length of 60 term SGA (<10thpercentile) childr...