ESPE Abstracts

Background: Progressive Osseous Heteroplasia (POH) is characterised by heterotopic ossifications in a deep muscle and fascia. To date, GNAS1 gene loss-of-function mutations on paternal allele were reported as responsible for POH. Unlike other GNAS1 related diseases such as pseudohypoparathyroidism 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP), patients with typical POH do not show hormonal resistance (HR) or Albright hereditary osteodystrophy (AHO). But some patients dia...

Background: Sex Cord Tumour with Annular tubules (SCTAT) is a rare ovarian benign tumour accounted approximately for 5% of ovarian tumour. SCTAT is an oestrogen producing ovarian tumour and can cause precocious puberty. For SCTAT, oophorectomy is recommended as the first-line therapy. Since SCTAT has a high rate of recurrence, it is clinically important to find a monitor method that can detect cancer recurrence in an early stage. In the previous reports, E2 and anti-mullerian ...

Background: Langerhans cell histiocytosis (LCH) is a rare disease with an incidence of less than 10 per million, and characterized by the clonal proliferation of pathogenic Langerhans cells. The clinical courses are diverse, ranging from spontaneously remitting single organ disease to life-threatening multisystem involvement. One of the serious complications of LCH is diabetes insipidus (DI), and patients with CNS-risk lesions had higher cumulative incidence of DI. On the othe...

Background: The clinical diagnosis of x-linked hypophosphatemic (XLH) rickets is based on a number of biochemical observations. These include a reduction in the percentage of tubular reabsorption of phosphate (%TRP), and in the maximal tubular phosphate reabsorption capacity corrected for glomerular filtration rate (TmP/GFR). However, it is important to maintain sufficient renal blood flow in order to accurately calculate TmP/GFR.Objective: The aims of t...

Background&: Arrhythmias associated with hyperthyroidism are mainly tachyarrhythmias, such as sinus tachycardia and atrial fibrillation. In comparison, hypothyroidism shows several electrocardiographic changes, including sinus bradycardia, low amplitude QRS complexes, QT interval prolongation. There are few reports of bradyarrhythmia with hyperthyroidism, and it remains unclear.Case: The patient is a 13-year-old girl with Down's syndrome. She underw...

Introduction: Although newborn screening (NBS) for congenital hypothyroidism (CH) in Japan started more than 40 years ago, the prevalence of CH remains unclear. Prevalence estimations among the NBS-positive CH individuals include those with transient hypothyroidism and transient hyperthyrotropinemia, and re-evaluation with increasing age is necessary to clarify the actual incidence. Thus, we re-evaluated the incidence of permanent CH.Subjects and Methods...

Introduction: Hysterosalpingography using oil-soluble iodinated contrast medium (ethiodized oil; Lipiodol) is a common examination for patients with infertility. Lipiodol remains in the body long after the examination, and there are some reports suggesting that Lipiodol induces thyroid dysfunction not only to the mother but also the fetus and the newborn. However, since there are no known mouse models of Lipiodol-induced thyroid dysfunction, we examined the influence of Lipiod...

Background: Hypospadias is a relatively common form of 46,XY disorders of sex development. Although several genes have been implicated in the development of hypospadias, molecular basis of the majority of cases remain unknown. Recently, targeted disruption of lysine-specific demethylase 3A (KDM3A) were shown to cause defective sex development in male mice.Objective and hypotheses: The aim of this study was to clarify whether KDM3A mutations underlie hypo...

Background: In initial treatment of DKA, volume expansion should begin with 0.9% saline to restore the peripheral circulation. The use of large amounts of chloride-rich/bicarbonate-free fluids may cause the rapid development of hyperchloremic metabolic acidosis, which is described in ISPAD Clinical Practice Consensus Guidelines 2018.The severity of DKA, defined by pH, HCO3- Base Excess (BE), is one of the factor...