ESPE Abstracts

Background: Collodion babies (CBs) are an inherited group of diseases characterized clinically by diffuses severely dry and scaling skin. Patients are generally born prematurely and/or small for gestational age (SGA). Congenital hypothyroidism is seen together with various congenital anomalies, although the mechanism involved is still unclear.Objective and hypotheses: To identify endocrinological problems, and particularly those concerning growth, in 42 ...

Introduction: Metaphyseal dysplasia, Spahr type(MDST) is an autosomal recessive primary skeletal dysplasia characterized by postnatal short stature, progressive bowing deformity, waddling gait, with an incidence of <1/1 million. MDST is caused by mutations in Matrix metallopeptidase 13(MMP13) gene. The MMP13 plays a role in the degradation of extracellular matrix proteins. It is required for embryonic bone development and ossification. It may be involved in...

Background: Menarche is the endpoint of a complex sequence of maturational events but is the unique marker of female puberty. Timing of menarche is a strongly heritable trait. However, secular trends suggest that lifestyle and/or environmental factors are important.Objective: To assess the trend in age at menarche (AAM) in Istanbul over the last 12 years, and compare the patterns according to socioeconomic status (SES), ...

Background: Laron syndrome (LS) is a disorder of primary growth hormone (GH) resistance caused by genetic defects in GH and insulin-like growth factor 1 (IGF-1) axis. Here, we present the variable clinical spectrum in two sibling cases of Iraqi Arab origin with GH receptor (GHR) mutation.CASES: Two siblings referred to our clinic with the chief complaint of short stature. They had been born with a normal weight at term.Their parents were...

Background: Congenital adrenal hyperplasia (CAH) is the most common form of primary adrenal insufficiency in children. 21-hydroxylase enzyme deficiency (21-OHD) occurs in 90–95% of all cases of CAH. Despite it being a treatable condition, if unrecognized, CAH may present with life-threatening cardiovascular collapse. Mortality in the first years is reported to be higher than in the general population. Neonatal screening for CAH is effective in detecting the salt-wasting f...

Background: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disease and characterized by early-onset diabetes, spondyloepiphyseal dysplasia, short stature, osteopenia, acute liver failure, and neurological deficit. It results from mutation in a gene of the eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3).Objective and hypotheses: We report two WRS patients diagnosed in infantile period.Me...

Background: Chanarin–Dorfman syndrome is a rare autosomal recessively inherited neutral lipid disorder which is characterized by congenital ichthyosis and multiple system involvement. It is diagnosed by visualization of lipid vacuoles in neutrophiles (Jordon anomaly) in suspicious cases. This syndrome can be associated with type 2 diabetes.Aim: We wished to remind this very rare disease in differential diagnosis of ichthyosis associating with diabet...

Background: Stiff-person syndrome (SPS) is a rare disorder which is characterized by muscle rigidity, spasm and cerebellar abnormalities. The etiology is not clarified yet. 80% of cases are caused by an autoantibody against GAD that inhibits synthesis of GABA. Other autoimmune diseases such as type 1 diabetes mellitus and thyroiditis are often associated.Aim: To underline the importance of considering SPS in differential diagnosis of patients with type 1...

Background: Although phaeochromocytoma is commonly considered in the differential diagnosis paroxysmal hypertension, only a small percentage of patients are actually diagnosed with this disorder. After exclusion of phaeochromocytoma, panic attack and pseudophaeochromocytoma should be considered in the differential diagnosis in patients with these symptoms. Here we report a rare case of pseudophaeochromocytoma presented with severe symptomatic hypertension attacks.<p class=...

Background: X-linked dominant hypophosphatemic rickets (XLHR) is a rare hereditary metabolic bone disorder. Calcitriol and phosphates are used for the treatment and hyperparathyroidism rarely occurs as a complication. We report a case of XLHR who developed autonomous parathyroid hyperfunction during treatment and underwent surgery for that.Case: A male patient was presented with short stature and bone deformities at age 11 months and diagnosed with XLHR ...