ESPE Abstracts

Background: Since the late 1960’s, pubertal breast staging has been based on Tanner’s classification. Appearance of glandular breast tissue may be difficult to distinguish by palpation from the surrounding subcutaneous fat tissue, especially in obese girls. To our knowledge, validation of the clinical assessment of pubertal stages by MRI quantification of glandular breast tissue has never been performed.Objective and hypotheses: i) To report no...

Background: IGF1 is essential for pre and postnatal growth. Mutations in IGF1 receptor (IGF1R) gene have been described in patients with intrauterine growth retardation and other anomalies.Objective and hypotheses: To study IGF1R gene in small for gestational age (SGA) patients with short stature and correlate the results with clinical presentation and response to rhGH treatment.Method: Longitudinal retrospective study of 69 SGA pa...

Background: Short stature homeobox (SHOX)-related haploinsufficiency is associated with a wide clinical variability, all characterized by growth failure with or without mesomelia and/or Madelung deformity. In patients, the effect of GH therapy on final height is comparable to the effect that can be obtained in Turner syndrome. The majority of the patients with SHOX-related haploinsufficiency disorder have deletions of varying sizes in SHOX. Point mutations in SHOX account for ...

Background: Inconsistent associations of leptin and adiponectin with bone mineral characteristics in puberty and adolescence have been reported.Aim: To examine associations between leptin to adiponectin ratio (LAR) in puberty and bone mineral characteristics at 18 years of age and increase of bone mineral characteristics until 18 years of age.Materials and methods: 88 boys were investigated with a ...

Aim: We aimed to investigate the growth potential of pituitary microadenomas and cystic lesions < 10mm in children, and to evaluate how reproducible the measurements were on magnetic resonance imaging (MRI).Design: Retrospective observational study.Methods: 74 children were included < 18 years at first pituitary MRI, and diagnosed with a microadenoma (microadenoma producing ACTH, GH or TSH ...

Background: It has been previously proposed that not all children with short stature displaying an inadequate response to tests for growth hormone (GH) secretion truly suffer from GH deficiency (GHD). Instead, amongst these, solely children with an identifiable monogenic cause of GHD or an identifiable functional or anatomical anomaly in the hypothalamic-pituitary axis should be considered GHD. The remaining patients should be defined as affected by “sho...

Central precocious puberty (CPP) caused by early maturation of the hypothalamic–pituitary–gonadal axis, resulting in early appearance of secondary sexual characteristics That affects children’s normal life and their adulthood’s final height. GnRH agonist therapy inhibits stimulating effects of endogenous GnRH by desensitizing hypophyseal gonadotropic cells and thus acceleration in bone maturation and early puberty is suppressed. So the aim of this longi...

Background: The non-alcoholic fatty liver disease (NAFLD) is the most common liver disease worldwide. It is not uncommon in children with type 1 Diabetes Mellitus. It is often asymptomatic and discovered accidentally.Aim: The aim of this work was to screen the presence of fatty liver among children with type 1 DM attending the diabetes Clinic of Alexandria University Children's Hospital and its relation to the state ...

Background: Type 1 diabetes mellitus (T1DM) is a complex metabolic disorder typically diagnosed in childhood and characterized by insufficient insulin production. Diabetic complications are still a major concern as they constitute the main cause of morbidity and mortality in diabetic patients despite the advances in T1DM treatment. Long-term complications of diabetes include retinopathy with potential loss of vision; nephropathy leading to renal failure; peripheral neuropathy ...

Background: Leydig cell tumor (LCT) is a rare testicular tumor developing from male gonadal interstitium and most common type of testicular sex cord-stromal tumor. Its incidence is about 1%–3% of all testicular neoplasms. In children only few cases had been reported and are associated with pseudo puberty.Case report: We report a case of a 4 years old boy admitted to our unit for management of precocious puberty which started one year ago with increa...