ESPE Abstracts

Context: Deficiency of 3β-hydroxysteroid dehydrogenase 2 (3βHSD2) causes a very rare form of congenital adrenal hyperplasia (CAH) known as 3βHSD2 deficiency, which is a consequence of biallelic HSD3B2 gene defects. The estimated prevalence is less than 1/1,000,000 live births. Knowledge of comprehensive steroid metabolome patterns in 3βHSD2 deficiency is scarce.Objective: We aimed...

Background: Alström syndrome is a rare genetic disorder characterized by retinal degeneration, hearing loss, early-onset obesity, type 2 diabetes, cardiomyopathy, systemic fibrosis and progressive multi-organ failure. Our aim is to present two siblings who were diagnosed in early childhood.Case presentation: Three years five months old female and her two years one month old sister admitted to paediatric neurology department due to lack of eye contac...

Background: Mutations in CYP21A2 are the most common cause of congenital adrenal hyperplasia (CAH). Even though disease linked mutations are rarely classified as founder, in this study, we describe a novel founder mutation, c.2T>C (p.M1?), inactivating the translation initiation codon.Objective and Hypotheses: We aimed to investigate genotype–phenotype correlation and population based origin of this novel mutation in CAH patients with 2...

Introduction: Automated insulin delivery systems provide significant improvement in the time in range(TIR) centered diabetes care. This study analyzes the real-word performance of Minimed 780G™system-Advanced Hybrid Closed Loop(AHCL) in children from a single center.Methods: Of the 93 children started to use AHCL between January 2021 and April 2022, 64 whose data could be accessed were included. 3,6,9 and 12 month-...

Background and Objectives: Enlargement and cystic changes in ovaries of patients with longstanding overt hypothyroidism has been observed in numerous case reports. But there is limited data about the effect of subclinical hypothyroidism (SH) on ovarian volume and ovarian cyst formation. We evaluated the relationship between serum thyroid stimulating hormone (TSH) level and ovarian volume and sonographic appearance in prepubertal girls with SH.<p class="abs...

Introduction: Isolated hypoaldestronism is a rare endocrinopathy in a limited number of patients who secrete normal level of cortisol, due to mutation in CYP11B2. In some cases clinical diagnosis can be late and genetic analysis showed difficulties.Case 1: A 7 month-old girl infant was referred to endocrinology department due to womiting, failure to thrive and severe hyponatremia with unexplained neutropenia. She was bor...

45,X/47,XYY mosaicism is quite rare, and, like 45,X/46,XY, it can be associated with mixed gonadal dysgenesis, Turner syndrome or apparently normal male/female phenotype. An infant aged 16 days, born full-term via spontaneous vaginal delivery to a 32 year-old G1P1 woman. His pregnancy and perinatal period were both uncomplicated except for maternal long QT syndrome. There was third degree cousin consanguinity between the parents. There was no any virilizing drug use and no mat...

Introduction: With the development and use of automated insulin delivery (AID) technologies like Advanced Hybrid Closed Loop (AHCL or Minimed 780G) system, it becomes possible to achieve tighter glycemic control. A new parameter called “Time in Tight Range” (TITR, 70-140 mg/dL) has been proposed to evaluate glycemic control in the latest consensus on the use of continuous glucose monitoring (CGM) data in diabetes research. This study aims to assess...

Background: Monogenic diabetes mellitus (DM) is an early-onset, non- autoimmune diabetes. Genetic diagnosis can personalize patient management and lead to prevention. We describe four generations of DM in one family, caused by a heterozygous mutation in the RFX6 gene. RFX6 (Regulatory factor X, 6) is essential for the development of the endocrine pancreas. Mutations in RFX6 can cause neonatal (Mitchell-Riley syndrome) as well as childhood DM,...

Background: Although it is known that hypoglycaemia could cause severe negative effects on brain development and also infantile spasm, it has not been reported that transient hyperinsulinaemic hypoglycaemia, which spontaneously improves over a short time, may cause infantile spasms. Infantile spasm is a disorder of early childhood typically seen in first year of life characterized by the occurrence of sudden, brief, generally bilateral and symetric motor spasms of muscles of t...