ESPE Abstracts

Introduction: Familial male-limited precocious puberty (or testotoxicosis) is a very rare genetic disorder with autosomal dominant transmission that causes gonadotropin-independent precocious puberty due to mutations activating the lutropin-chorionic gonadotropin receptor (LHCGR), which lead to elevated testosterone levels and suppressed gonadotropins. The age of onset is between 2-5 years essentially with penis and testes enlargement, linear growth accelerati...

Introduction: Obstructive sleep apnea (OSA) affects up to 40% of children and adolescents with obesity and the risk for OSA is directly correlated with obesity severity. Several studies have pointed out that OSA per se might lead to metabolic derangement including worsening of insulin resistance, hyperglycemia, and hepatic steatosis. However, the pathophysiologic mechanisms underpinning these associations remain unclear, especially in pediatric groups. The mai...

Background: Patients with congenital IGHD or MPHD develop adiposity already "in utero". The effects of growth hormone (GH) treatment on adipose tissue are controversial, many claiming that GH reduces body fat (1.2). In addition there are reports that long-term GH treatment causes glucose intolerance, insulin resistance, followed in some instances by diabetes (3).Objective: To determine whether long-term hGH treat...

Background: Kearns-Sayre syndrome (KSS, OMIM #530000) is a rare disease belonging to a heterogeneous group of mitochondrial cytopathies. KSS is caused by deletions and/or duplications in the mitochondrial DNA, which lead to the dysfunction of the respiratory chain and to disorders in tissues with a high energy demands (muscle, nervous system).Case presentation: The girl was admitted to the hospital at the age of 13 years with the suspision of KSS. Progre...

We present the case of a now 20 months old female patient, in whom we diagnosed MAS on the basis of pseudoprecocious puberty and hypercorticism at the age of 10 months. Medical history and photodocumentation suggested that symptoms of hypercorticism were present soon after birth. At age 4 months thelarche had occurred, followed by vaginal bleeding at age 5 months. At first presentation at our outpatient clinic, the girl was severely short (-5 SDS), with only minimally advanced...

Background: Leydig Cell Hypoplasia (LCH) is a very rare autosomal recessive condition that is manifested by a wide spectrum of phenotypes, ranging from completely female external genitalia to male genitalia. Long-term outcome in these patients is unclear.Objectives: To assess sex assignment, clinical characteristics and long-term outcome of 46,XY LCH cases.Patients and Methods: Thr...

An oral GH secretagogue (GHS), LUM-201, stimulates GHSR-1a receptor to enhance endogenous GH pulsatile release. In moderate iPGHD, pulses of GH are found but at reduced levels, resulting in decreased IGF-1 and poor growth. The impact of LUM-201 on GH profiles during treatment of such children has not been reported.Objective: To characterize GH profiles, defined by deconvolution analysis, based on GH concentration in a time series and its...

Background: Fetal skeletal bone development and mineralisation depends on placental calcium transfer. Although Parathyroid Hormone (PTH) pathway has some contribution, TRPV6 (the sixth member of the Transient Receptor Potential Vanilloid family) is a recently identified receptor involved in calcium transport and is predominantly expressed in the placenta. It has not previously been linked with skeletal development disorders.Case: This infant had...

Skeletal dysplasias are conditions in which there is an abnormality of bone and/or cartilage growth, which may show phenotypic evolution throughout life. They are genetically and radiologically heterogeneous, with accurate diagnosis requiring careful correlation of clinical, genetic and radiological information. Presentation may be with unexplained short stature, and this, in the presence of disproportion is the most common indication for a skeletal survey within paediatric en...

Abnormal bone development is commonly seen in children with chronic disease. However, fragility fractures in the young individual may be less common compared to older adults, which may be due to under recognition. The underlying chronic condition and medication can impact on bone turnover, modelling, bone mineral homeostasis, growth, pubertal development and muscle mass. The diagnosis and management of osteoporosis in children and adolescents with chronic disease remains conte...