ESPE Abstracts

Background: The phenotype of SHOX aploinsufficiency is highly variable also in affected members of the same family with broad differences in severity of short stature, disproportion, presence of Madelung deformity.Case presentation: We present a family with a new mutation of SHOX gene. A 2.3 years old girl, born at term from unrelated parents, came to our observation for short stature. Her height was −2.02 SDS, arm span was normal, sitting heigh/he...

Background: 3-M syndrome is an autosomal recessive growth disorder characterised by severe pre- and post-natal growth retardation caused by mutations in CUL7, OBSL1 or CCDC8. Clinical characteristics include dysmorphic facial features and fleshy prominent heels with a variable degree of radiological abnormalities.Objective and hypotheses: Evaluation of four new patients from two different families. Cases:Family-1/Patients-1,2: Two ...

Background: Monocarboxylate transporter 8 (MCT8) is a specific transporter of triiodothyronine (T3). MCT8 gene mutations cause a rare X-linked disorder known as Allan–Herndon–Dudley syndrome, characterized by thyroid dysfunction (high T3, low T4, and normal/high TSH) and psychomotor retardation.Case report: A 4-year- and 9-month-old boy, who was already having L-T4 treatment fo...

Background: Processing of Precursor 1 (POP1) is a core protein component of the Ribonuclease-Mitochondrial RNA Processing (RNase-MRP) enzymatic complex, an essential complex in all eukaryotes. Mutations in RMRP, encoding the RNA moiety of the complex cause cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders, characterized by severe disproportionate short stature. Recently, five patients harboring mutations in POP1 have been report...

Background: Li-Fraumeni Syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in in the TP53 gene and high risk of a broad range of early-onset malignancies. The 70-77% of LFS associated tumors are: breast cancer, soft-tissue sarcoma, brain tumor, osteosarcoma and adrenocortical carcinoma. However, ovarian, pancreatic and gastrointestinal track tumors are also LFS-related. The patients with LFS are at risk for a second ...

Aggrecan is a structural glycoprotein of the extracellular matrix of cartilage present in the articular cartilage, growth plate and cartilage of the intervertebral disc. Biallelic pathogenic variants are the cause of aggrecan type spondyloepiphyseal dysplasia (OMIM#612813) while the presence of heterozygous pathogenic variants determine Kimberley type spondyloepiphyseal dysplasia (OMIM#608361) and short stature associated or not with acceleration of bone maturation and early o...

Introduction: The most common congenital malformations of the scrotum are bifid scrotum, penoscrotal transposition, and ectopic scrotum. Scrotal agenesis is a very rare congenital anomaly characterized by the absence of scrotal rugae in the perineal tissue between the penis and anus. To date, 9 cases with complete scrotal agenesis have been described in the literature. Here, a case with complete scrotal agenesis with MAB21L1 homozygous mutation is presented to...

Case Report: A 5-month-old girl born to first-cousin parents was referred to endocrinology for evaluation following two hospitalizations for vomiting and dehydration with severe hyponatremia and hyperkalemia. She had a history of recurrent emesis and poor weight gain, with a reportedly normal abdominal and renal ultrasound.Initial evaluation showed hyponatremia with elevated renin 170 ng/ml/hr (normal 2-37 ng/ml/hr) and aldosterone 275 n...

Prader–Willi Syndrome (PWS [MIM 176270]) is a rare neurogenetic disorder mapping to the chromosome 15q11-q13 domain, which results from the genetic and epigenetic function deficiency of genomic imprinting of paternal alleles. It is characterized by neonatal hypotonia with following childhood obesity, hyperphagia, developmental delay and short stature, hypogonadism, cognitive impairment, and behavioral problems. PWS is generally sporadic that occurs in about 1 in 10 000 to...

Introduction: Robinow syndrome is a rare autosomal recessive and autosomal dominant disorder affecting the whole skeletal system. Autosomal recessive robinow syndrome is characterized by shortness of the long bones and vertebra anomalies. Less than 200 cases of autosomal recessive robinow syndrome have been reported in the literature.Case: The newborn was referred to pediatric endocrine clinic for disorder of penis devel...