ESPE Abstracts

Background: Imprinted genes are known to regulate fetal growth and a ‘parental conflict’ model predicts that paternally and maternally expressed imprinted genes promote and inhibit fetal growth, respectively. GNAS is a complex imprinted locus with multiple oppositely imprinted gene products. Maternal, but not paternal, G(s)alpha mutations lead to obesity in pseudohypoparathyroidism type IA (PHPIA). However, the disorder rarely causes severe obesity in infancy as pred...

Osteogenesis imperfecta (OI) is a rare, hereditary bone dysplasia with a broad clinical spectrum that includes skeletal and extra-skeletal manifestations. It is genetically heterogeneous and there are multiple described mutations that explain the clinical variability of this entity and make it difficult to establish a genotype-phenotype correlation.Objectives: To evaluate the clinical and genetic characteristics of the patient with OI.</...

Background: Cantù syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Other findings described are vascular abnormalities, pulmonary hypertension, generalized edema, mild learning disability and behavioral problems. Cantù syndrome is related to an heterozygous pathogenic variant in ABCC9 or KCNJ8, which can be inherited in an autosominal dominant manner or d...

Introduction: CORNELIA DE LANGE Syndrome (CdLS) is a rare syndrome, first described in 1933 by the Dutch pediatrician CORNELIA DE LANGE. This syndrome represents a multi-systemic disorder with physical, cognitive and behavioral characteristics. It is evident in the typical or classical form (craniofacial appearance, short stature and limbs deformities). However, not all individuals with CdLS present with the classic phenotype, as the clinical presentation can ...

Introduction and Aims: Autosomal dominant hypocalcemia or type V Bartter syndrome is characterized by hypocalcemia, low parathyroid hormone (PTH), and calciuria, which marks its prognosis due to the risk of nephrocalcinosis. It is caused by activating mutations in the calcium-sensing receptor (CASR) gene (3q21.1), which is expressed in the parathyroid and renal tubules, causing salt and potassium loss, due to the inhibition of the ROMK and NKCC2 channels. We s...

Cornelia de Lange syndrome is a genetic disorder with physical, cognitive, somatic and endocrine disorders. Objective. To study endocrine and mammary disorders in girl with Cornelia de Lange syndrome. Objective and hypotheses: We describe a clinical case of Cornelia de Lange syndrome in girl, 10 y.o.Method: Total examination (includingmammological and gynecological examination), hormonal analysis, thyroid, mammological and gynecological ...

Background: Marfan syndrome is an autosomal dominant genetic disorder with skeletal, cardiac, and ocular involvement. Mutations in the fibrillin-1 gene on chromosome 15 are responsible for the development of the syndrome.Objective: To present one case of neonatal Marfan syndrome.Case: The patient was a 1-day-old female neonate who was born at 36 weeks gestation via normal delivery. Her body weight was 2900 g and height 48 cm. Ultra...

Introduction: Subacute thyroiditis or De Quervain’s Thyroiditis is a self-limited inflammatory thyroid disease that is considered to be caused by a viral infection. Its incidence during the first decade of life is extremely rare. During the acute phase of the disease which lasts 2 to 6 weeks, the inflammatory process results in a temporary release of thyroid hormone with biochemical hyperthyroidism with or without symptoms. This phase is followed by a period with failing ...

Background: The clinical phenotype of the chromosome 2q31 deletion syndrome consists of a variety of limb abnormalities and other skeletal defects, craniofacial dysmorhic features, developmental delay, and other not specific congenital anomalies.Objective and hypotheses: To describe a patient with 2q31.1 microdeletion syndrome and short stature, diagnosed with GH deficiency.Method: We describe a 5 years and 4 months girl with devel...

Background: Septo-optic dysplasia (SOD) is a rare congenital anomaly, clinically heterogeneous, combining optic nerve and pituitary gland hypoplasia, midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. The diagnosis is made when two or more features of the classic triad are present. HESX1, SOX2, SOX3, FGF8, FGFR1, PROKR1, SHH, are implicated in the etiology of SOD.Objective and hypotheses: Description of a ...