ESPE Abstracts

Background: STAT5B deficiency is characterized by severe postnatal growth failure, low IGF1, elevated levels of GH and prolactin, and immunodeficiency. To date, only ten patients with seven different mutations have been described.Objective and hypotheses: Describe clinical characteristics of a novel homozygous frameshift mutation in STAT5B.Results: A 17-year-old female was referred for proportionate short stature and prima...

Background: Hypochondroplasia is an osteochondrodysplasia inherited in an autosomal dominant pattern that results in a disproportionately short stature, characteristic facial features and skeletal alterations such as lordosis and genu valgum. Haploinsufficiency of the fibroblast growth factor receptor 3 gene (FGFR3) is responsible for 50–70% of the cases, but a negative result doesn’t rule it out.Case presentation: We report a...

Introduction: Primary growth hormone resistance or growth hormone insensitivity syndrome (Laron syndrome) is an autosomal recessive disorder caused by deletions or mutations in the growth hormone receptor gene or by post receptor defects. Laron is characterized by a clinical appearance of sever growth hormone deficiency with high levels of growth hormone in contrast to low insulin-like growth factor 1 values and in this cases are refractory to both endogenous ...

Background: Ectodermal dysplasia is considered as an inherited multi-systemic disorder affecting tissues derived from ectoderm (skin, hair, teeth, nails and sweat glands). There are many genes involved in genetic background of this disorder with variable modes of inheritance. The thrombospondin-type laminin G domain and epilepsy- associated repeats (TSPEAR) gene have been found in some patients with this disorder with interesting variable phenotypic spectrum. ...

Central diabetes insipidus (CDI) at neonatal age may occur in the setting of intracranial abnormalities that affect the hypothalamus-pituitary system. These conditions are characterized by defective production, transport or secretion of antidiuretic hormone (ADH). This results in inappropriately low ADH levels in the setting of increased plasma osmolality. We present the case of an infant born by C-section at 38 weeks of gestation, with bilateral cheilognatopalatoschisis, naso...

Introduction: Langerhans cell histiocytosis is a neoplastic disorder characterized by proliferation of myeloid dendritic cells. It can involve single system or multisystem with commonly involving sites including skin, bone, central nervous system, lung, hematopoietic system, liver and spleen. It also involves the endocrine system with diabetes insipidus a common presentation in 15-50% cases. It has a broad spectrum of presentation ranging from a relatively ben...

Background: Cleidocranial dysplasia (CCD) is a very rare dominantly inherited autosomal bone disorder mainly characterized by hypoplasia or aplasia of clavicles, failure of cranial suture closure, dental anomalies, short stature, and other changes in skeletal patterning and growth. Heterozygous loss-of-function mutations cause the majority of the abnormalities in the run-related transcription factor 2 gene (RUNX2). This gene is located on chromosome 6p21 and i...

Introduction: Laron Syndrome (LS) or primary growth hormone (GH) insensitivity is an autosomal recessive disorder due to variants in the GH-receptor (GHR) gene or to post-receptor defects. LS prevalence is estimated 1-9/1000000. We report a case of LS with a missense variant in the GHR gene not previously described.Case: female, Turkish, was referred to our clinic for short stature. Born at term, birth ...

Introduction: Interstitial deletions on the long arm of the 12th chromosome are rare and often occur de novo. These deletions have been found to be associated with mental retardation, developmental delay, growth retardation and various congenital anomalies in different studies. In studies up to date, it has been determined all interstitial 12q deletions are clustered between five regions on this chromosome (HMGA2, GRIP1, LEMD3, MSRB3, and TMBIM4). Low birth we...

Introduction: Pituitary stem interruption syndrome (PSIS) is a congenital anomaly of the pituitary gland characterized by the absence or thinness of the pituitary stalk, an ectopic posterior pituitary gland and a hypoplastic or aplastic anterior pituitary gland. Our case is an example of this rare syndrome.Case: A 12-month-old male patient was referred to us by pediatric urology for micropenis and undescended testis. He ...