ESPE Abstracts

Background: Diazoxide (DZX) is the first-line drug for congenital hyperinsulinism (CHI). DZX-unresponsiveness is common in patients with ATP-sensitive K (KATP) channel (ABCC8, KCNJ11) gene abnormalities. However, even in KATP channel abnormalities, when pathological variants are found only in the paternal allele, the pancreatic lesions may be localized and radically resectable, and genetic analysis may be helpful. Some reports summarizing the genetic ...

Background: While reports of hypopituitarism resulting from traumatic brain injury are increasingly common in European countries, long-term clinical courses are scarcely documented. We here present Japanese 31-year-old case with hypopituitarism caused by traumatic brain injury at the age of 5 months.Objective and hypotheses: To clarify the evolution of clinical and endocrinological data for 30 years in this patient. We hypothesize that the evolution prog...

Background: Diffuse or multifocal infantile hepatic hemangiomas cause consumptive hypothyroidism due to overexpression of type 3 deiodinase in the endothelium of vascular tumor. Because type 3 deiodinase converts of T4 to reverse T3 and of T3 toT2, a use of levothyroxine alone may not maintain normal levels both fT3 and fT4. T3 therapy in this order has scarcely been reported. We here present a Japane...

Background: Aminoacyl tRNA synthetases (ARSs) are enzymes that bind amino acids to tRNAs, and many of their genetic variants are known to be pathogenic. Asparaginyl Aminoacyl tRNA synthetase (NARS1) deficiency was first reported as a cause of microcephaly in 2020. NARS1 deficiency is characterized by microcephaly, psychomotor retardation, epilepsy, congenital abnormalities of the limbs and skeleton, and a peculiar facial appearance. However, there have been no...

Introduction: PIK3CA-related overgrowth spectrum (PROS) encompasses a group of disorders caused by mutations in the PIK3CA gene, leading to abnormal growth and development of various tissues in the body. We report a case of PROS with hypertrophy of the right index finger and upper limbCase: The case is a 19-month-old boy. He was born at 38 weeks of gestation, weighing 2,554g and measuring 47.2cm in length, with a head ci...

Background: Bilateral primary pigmented nodular adrenocortical disease (PPNAD) is one of the rare causes of Cushing syndrome, which has traditionally been treated by bilateral adrenalectomy. However, bilateral adrenalectomy mandates life-long adrenal hormone replacement and the patients remain at risk of adrenal failure for the rest of their lives. In adult patients with PPNAD, there have been a few reports of successful unilateral adrenalectomy. However, to our knowledge, the...

We perfomed mutational analyses of the major MODY genes (HNF1A, HNF4A, HNF1B, GCK) on 263 Japanese patients with early-onset, nonobese, MODY-like diabetes mellitus referred to Osaka City General Hospital for diagnosis. Mutations were identified in 103 (35.9%) patients; 57 mutations in GCK; 29, HNF1A; 7, HNF4A; and 10, HNF1B. Compared with these mutation-positive patients, 160 mutation-negative patients were significantly older (P=0.003), and had high...

Background & Purpose: Vitamin D is essential for bone and calcium metabolism, and a deficiency of this nutrient can lead to rickets and hypocalcemia. A 25 hydroxy-vitamin D (25OHD) value below 12 ng/mL (30 nmol/L) has been established by global consensus on the basis of several studies as constituting vitamin D deficiency. For example, (1) the incidence of nutritional rickets can increase at a 25OHD concentration of less than 12 ng/mL; (2) PTH increases wh...

Background: Congenital hypothyroidism (CH) can be categorized into two types: transient CH (group T) and permanent CH (group P). Several studies have recently demonstrated that the levothyroxine (LT4) dosage is useful for predicting LT4 requirement; however, none of the studies followed up their patients to puberty.Objective: To determine the cutoff value for the LT4 dosage as a predictor of LT4 requirement after puberty...