ESPE Abstracts

Background: Hypophosphatasia (HPP) is a rare inherited disease of bone metabolism caused by inactivating mutations in the ALPL gene encoding tissue non-specific alkaline phosphatase (TNSAP). Infantile HPP is characterized by early onset abnormal skeletal mineralization with hypercalcemia and low alkaline phosphatase (ALP). It has been rarely reported from Thailand, resulting in limited disease awareness. We reported an infantile HPP Thai patient who p...

Hypocalcemia is a common metabolic problem and a recognized cause of seizures in neonates and infancy. Breastfed infants born to mothers who are vitamin D and or calcium deficient are at risk of developing vitamin D deficiency and hypocalcemia.Case report: We present two infants (two weeks old boy and a 9-month-old girl) with hypocalcemia caused by vitamin D deficiency admitted to our pediatric emergency department for seizures and tetan...

Background: Extracorporeal shock wave therapy (ESWT) is widely used in the clinic for non-union of fractures. However, effect of ESWT on longitudinal bone growth has not been well studied. We explored the in vitro and in vivo effects of low/high dose radial shock wave treatment (SWT) on growth plate (GP) cartilage. A positive or negative effect on growth could be harnessed for therapeutic growth modulation while no change establishes safety.<p class="abst...

Introduction: Central hypothyroidism is due to a deficiency of TRH/TSH.Patient and Methods, Results: A 9 year old boy (07 Aug. 20) was referred for proportionate short stature (-2.7 SD). He complained of fatigue and had mild peripheral edema. His baseline T4 was 2.9 ug/dL(ref. 4.50-12.50 ug/dL) and TSH 0.04 uIU/ml (0.400-4.00). The TRH test showed low TSH <0.004 Ulu/ML (ref. 0.400-4.00) and low T4 2.70 (ref. 4.50-12....

Objective: To explore the clinical and molecular genetic characteristics of congenital lipoid adrenal hyperplasia (CLAH), and to sequence the acute regulatory protein (steroid acute regulatory, StAR) gene of the infant patient and her pedigree.Methods: Physical examination, laboratory tests, and imaging examination of the 1-month- old patient with CLAH were collected. DNA was extracted from blood samples of the patient a...

Introduction: Niemann Pick type B (NMP B) is a rare lysosomal storage disease caused by mutations in the SMPD1 gene. Typically, had normal height and weight. In this work, we report an unusual association of a Niemann Pick disease in a child with hypopituitarism.Case:We report the case of a young boy who was hospitalized at the age of 11, in Hematological Department for splenomegaly and polyadenopathies where the d...

Background: X-linked Congenital Adrenal Hypoplasia (AHC) is a rare cause of primary adrenal insufficiency due to mutations in NR0B1 gene, causing a loss of function of the nuclear receptor protein DAX-1. Adrenal insufficiency usually presents in the first two months of life, but sometimes can appear later in childhood. Hypogonadotropic Hypogonadism is often associated later in life and all patients develop azoospermia. We describe an unusual onset of AHC started with ...

Introduction: The MODY diabetes (Maturity Onset Diabetes of the Young) belongs to monogenic alterations group, the mutation of the gene HNF-1α is the most common and present an autosomal dominant inheritance that causes dysfunction of the Beta pancreatic cell and alteration in the reabsorption of glucose to renal level, with age of variable presentations, it often leads to a misdiagnosis as type 1 diabetes mellitus.Description of the clinical case: ...

Background: Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare condition inherited as an autosomal dominant trait. The responsible genetic defect is in the region 10p. Phenotype is very similar to DiGeorge Syndrome (DGS) which occurs due to 22q11 microdeletion.Method: An 8-year-old girl was referred to Pediatric Endocrinology outpatient department because of hypoparathyroidism. She was born at 36 weeks after a normal pregnancy and ...

Global Pediatric Endocrinology and Diabetes (GPED) aims at addressing needs that are common to all societies and is not intended to duplicate the specific societies’ activities. GPED’s website (www.globalpedendo.org) allows for registration of members as well as for a search function.Specific existing and potential projects include:i) Preventing redundancy of resources: developme...