ESPE Abstracts

Introduction: Lipodystrophies are heterogeneous group of disorders; characterized by congenital or acquired loss of fat tissue. These disorders can causes severe metabolic complications during childhood. Case: 10.5 years old girl admitted to our clinic due to pigmented lesions on her body. She was investigated due to sclerotic lesions on her legs when she was 8 years old and was diagnosed as scleroderma and methotrexate was initiated. On physical examination weight was 47 kg (...

Introduction: McCune–Albright syndrome (MAS) is a rare disease resulting from a somatic activating mutation of GNAS1 encoding the Gs-alfa subunit of the G-protein coupled membrane receptor responsible for multiple hormonal signaling cascades leading to the classical trias: polyostotic fibrous dysplasia, café-au-lait hyperpigmentation and GnRh independent precocious puberty. Early manifestation is accompanied with multiple organ involvement and may lead to ACTH-indepe...

Introduction: Micromastia or breast hypoplasia is a condition which is described as postpubertal underdevelopment of a woman’s mammary tissue. Breast hypoplasia may be congenital or acquired. The defect can be isolated or associated with other pathology, including syndromes and chest wall anomalies, it can also be unilateral or bilateral. Unilateral congenital breast hypoplasia is a rare anomaly of breast development, whose incidence is unclear.Meth...

Background: That mortality is not increased in rhGH-treated patients when adjusting for birth characteristics was recently published (1). When applying a developed mortality model of the general population, the observed and expected deaths in rhGH-treated IGHD, ISS and SGA patients (n=3847) where 21 and 21.99, respectively. The model includes gender, age, calendar year, gestational age (GA), birth lengthSDS (BLSDS), birth weightSDS (BW...

Background: A compromised final height (FH) is a concern in patients diagnosed with congenital adrenal hyperplasia (CAH). The lack of achievement of the genetic target height (TH) can be attributed to treatment with high doses of corticosteroids and high levels of adrenal androgens. Despite the emergence of new therapeutic modalities such as the use of anti-androgens and growth hormone it has been shown that a favorable FH can be achieved with careful use of corticosteroids.</...

Background: T1D concordance in MZ twins being ~40%, non-heritable factors play a major causal role in this autoimmune disease. T1D has recently increased in young European children. Collecting prospective environmental data in a cohort of millions children-years starting soon after birth seems unpracticable. Retrospective case-control studies are an alternative, provided biased controls and recall bias can both be avoided.Objectives: To develop a ‘v...

Background: T1D concordance in MZ twins being ~40%, non-heritable factors play a major causal role in this autoimmune disease. T1D has recently increased in young European children. Collecting prospective environmental data in a cohort of millions children-years starting soon after birth seems unpracticable. Retrospective case–control studies are an alternative, provided biased controls and recall bias can both be avoided.Objectives: To develop a &#...

Background: Hyperinsulinism/hyperammonaemia (HI/HA) syndrome is associated with postprandial hypoglycaemia and mild hyperammonemia. There is increased insulin release following protein ingestion, which is amenable to diaxozide therapy. While developmental delay and normoglycaemic seizures can also occur, hepatomegaly has not been reported. We report a child with HI/HA and hepatomegaly, mild learning difficulty and obesity, who was initially mistaken to have glycogen storage di...

Background: Diabetes insipidus (DI) is a well-recognized post neuro surgical complication arising after hypothalamic-pituitary surgery. DI occurring in the post-operative period can be transient happening within 24–48 hour of surgery, secondary to trauma to the connections between the magnocellular bodies and the nerve terminals in the posterior pituitary, or to axonal shock from disturbances in the vascular supply to the pituitary stalk and posterior pituitary.<p cla...

Background: Short stature homeobox (SHOX) gene, located on the pseudoautosomal region of the sex chromosome plays an important role in the development of skeleton and its mutations/deletions can cause skeletal dysplasias.Objective and hypotheses: We report a male, with Type I Diabetes (T1DM) with Y chromosome deletion and short stature due to the concurrent loss of SHOX.Method: A 15-year-old boy with T1DM for 6 years was referred f...