ESPE Abstracts

We have examined a female child patient aged about 3 years and 8months old to confirm the diagnosis of Schmid metaphyseal chondrodysplasia (SMCD) at the Genetics out-patient department, Children's Hospital Affiliated to Zhengzhou University. The child was diagnosed with the abnormal phenotypic characteristics who showed short-limbed dwarfism, bowed legs, waddling gait and genu varum. Based on the child's family history, during the early stages, the child was misdiagnos...

Aims/hypothesis: The Wolfram syndrome, also known as the DIDMOAD syndrome (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy, and Deafness), is mostly associated with recessive mutations in the WFS1 gene. However, dominant mutations in the WFS1 gene were described as causing less severe Wolfram-like syndrome, or isolated optic atrophy, or low-frequency sensorineural hearing loss.Method...

Objective: Inactivating mutations in the gene encoding the alpha-subunit of Gs (GNAS) gene, which consists of exons 1-13 and encodes the alpha-subunit of the stimulatory G protein (Gsa), are associated with several clinical syndromes, including pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), and progressive osseous heteroplasia (POH).Method: We documented patient clinical characteristics a...

Background: okur-chung neurodevelopmental syndrome was confirmed to be associated with developmental disorders attributed to germline CSNK2A1 pathogenic missense variants. Only 26 cases and 22 kinds of genotype have been reported in the world so far. All reports highlighted the recognizable facial features of the syndrome as well as frequently occurring clinical features including neurodevelopmental delay, short stature, gastrointestinal, musculoskeletal and i...

Background: Steroid 5-Alpha-Reductase-2 deficiency(5-ARD) is a result of mutations in the SRD5A2 gene. It causes disorder of sexual differentiation(DSD) in 46XY individuals with a variable genital phenotype. We present two siblings with a female external genitalia at birth and bilateral inguinal testes, raised as females. These are the first molecularly sharacterized patients from the Republic of Macedonia with a different clinical course due to the time of th...

Purpose: This study aimed to describe gene mutations and growth outcome in patients with 21-hydroxylase deficiencyMethods: Subjects were diagnosed as 21-hydroxylase deficiency by direct Sanger sequencing or multiple ligation-dependent probe amplification analysis and visited Pusan National University Children's Hospital from July 2008 to April 2019.We investigated the genotype, phenotype and growth profiles.<p cl...

Background: Vitamin-D-dependent rickets 1A (VDDR-1A) is a extremely rare, autosomic recessive genetic form of rickets caused by a defect in vitamin D 1α-hydroxylase enzyme which leads to low levels of 1,25-(OH) vitamin D.Herein, we report two Moroccan sisters R.E. and N.E. (respectively 3 and 15 months old), born from consanguineous parents, who presented with psychomotor retardation and failure to thrive.<str...

The main role of the acid-labile subunit (ALS) is to stabilize the IGFBP3/IGF complexes. Pathogenic variants in the gene coding for ALS (IGFALS) results in IGF1 and IGFBP3 deficiency, short stature, delay puberty and insulin resistance. The aim of these study was to identify the genetic cause in a patient with suspected ALS deficiency. The proband is the third son of non-consanguineous parents, evaluated for the first time at 17.3 years due to short stature (−2....

Purpose: Multiple Endocrine Neoplasia type 2 (MEN2) affects patients with RET proto-oncogene mutations. This cohort study refer to patients who were diagnosed with familial medullary thyroid carcinoma (MTC) and underwent RET genetic testing in Cyprus between years 2002 and 2017.Methods and Patients: Forty patients underwent RET testing by Sanger sequencing of exons 10–11 and 13–16. Genotyping with STR genetic markers ...

Background: Human HSD11B2 metabolizes active cortisol into cortisone and protects the mineralocorticoid receptor from glucocorticoid occupancy. Loss of function mutations in HSD11B2 gene cause a rare autosomal recessive disorder, apparent mineralocorticoid excess, resulting in low-renin hypertension and hypokalemia.Objective: We present 2 children with apparent mineralocorticoid excess. Case 1, a boy presenting at 11 yea...