ESPE Abstracts

Introduction: ‘Receptor tyrosine kinase-like orphan receptor 2 (ROR2)’ is a transmembrane protein tyrosine kinase encoded by the ROR2 gene. Pathogenic mutations in ROR2 are involved in two diseases: biallelic loss-of-function mutations in Robinow syndrome and monoallelic gain-of-function mutations in brachydactyly type B1. Recently, monoallelic loss-of-function mutations in ROR2 have been reported as a cause of isolated short stature. Here we repor...

Introduction: Silver-Russell syndrome (SRS) is a rare, well-defined genetic disease characterized by intrauterine and postnatal growth retardation, short stature, triangular face, relative macrocephaly and body asymmetry. The most common molecular pathologies are loss of methylation (50%) of the imprinting center in the p15.5 region of the paternal 11th chromosome and maternal uniparental disomy of the 7th chromosome (5-10%). The IGF2 (insulin-like growth fact...

Objectives: Trichorinophalangeal syndrome (TRPS) is a cause of syndromic short stature; and is characterized by typical dysmorphology, ectodermal dysplasia, and skeletal findings. There are two types of TRPS; TRPS-I caused by monoallelic pathogenic variants in the TRPS1 gene, and TRPS-II caused by whole gene deletion. TRPS-II; also called Langer-Giedion Syndrome (LGS), in which multiple exocytoses can be seen in addition to typical TRPS features due t...

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 ...

Introduction: Congenital adrenal hyperplasia (CAH) has an incidence of 1:14 000 to 1:18 000 worldwide. It is caused by autosomal recessive gene mutations. Neonates typically present with virilization at birth, or in shock, ‘salt-losing crisis’, around days 10–14 of life. Some children present later with simple virilizing CAH, often with milder compound heterozygous mutations. Reactive thrombocytosis is a rare manifestation in CAH. Gasparini <...

Background: Allogeneic hematopoietic stem cell transplantation (HSCT) has emerged as an increasingly successful option to cure a variety of malignant disorders in children. Children benefit from improved survival; however, HSCT is associated with numerous acute and long-term toxicities. Osteoporosis is a well described, late effect of allogeneic HSCT, associated with corticosteroid treatment and patients exposed to cumulative doses >9000 mg/m2 of prednisone...

Introduction: Noonan syndrome-like disorder with loose anagen hair (NSLH1), also known as Mazzanti syndrome (OMIM#607721) is a RASopathy due to missense mutation (c.4A>G, p.Ser2Gly) in SHOCK2 gene. The NSHL1 is characterized by Noonan syndrome-like facial dysmorphisms, easily pluckable, slow growing, sparse and thin hair, growth retardation, variable neurocognitive impairment and cardiac anomalies.Aim: To present an a...

Introduction: The IGSF1 gene deficiency syndrome (IDS) is an X-linked disorder involving hormonal disfunctions. We report a case of Central Hypothyroidism (CH) due to a Xq26.1q26.2 microdeletion including the IGSF1 gene.Case: this boy was referred to our clinic for thyroid dysfunction. He was born at term by caesarean section due to maternal uterine myoma. Pregnancy was normal, parents were non consangu...

Introduction: Overgrowth syndromes comprise an heterogeneous group of rare disorders characterized by generalized or segmental excessive growth commonly associated with additional features, such as developmental delay, visceromegaly and macrocephaly. They may present with inherent health concerns and, in some instances, an increased risk of tumor development requiring prompt diagnosis and appropriate referral.Objective: ...

Primary ovarian insufficiency (POI) affects about 1% of females under 40 and represents a major cause of female infertility. Approximately one third of POI are of genetic in origin, including FMR1 premutation, Turner syndrome and approximately 60 other genes, involved in development, hormonal signaling, cell division and survival, immunity, and metabolism. MCM8 is a recently discovered gene that plays an important role in homologous recombination and DNA repair and only up to ...