ESPE Abstracts

Introduction: Neonatal hypoglycemia (NH) affects about 15% of all neonates and about 50% of neonates born with risk factors, including maternal diabetes, large- or small for gestational age, or prematurity. Although it is known that hypoglycemia in congenital hyperinsulinism can lead to brain injury, it is still not clear to what extent transitional NH is tolerated during the first days of life without brain damage. Thus, treatment thresholds and management st...

Introduction: In adolescents and men with PAIS, gynaecomastia has been reported in the majority but its management remains challenging.Objectives: To assess the current management of gynaecomastia as well as clinical characteristics in male PAIS.Materials and Methods: Retrospective review in the I-DSD registry of 46, XY male PAIS who were over the age of 10 years.<p class="abst...

Background: Serum bone turnover markers may serve as parameters for predicting the growth response to growth hormone (rhGH) treatment.Objective and hypotheses: Assessment of the alkaline phosphatase (ALP) value in early prediction of the effects of rhGH treatment in children with growth hormone deficiency.Method: The study group consisted of 50 children with GHD. ALP, bone-ALP, vitamin D and I...

Background: According to the latest studies vitamin D has an effect on the production and/or secretion of IGF1 in the liver, but the exact mechanism regulating these relationships has not been thoroughly explained.Objective and hypotheses: Evaluation of the relationship between 25(OH)D and IGF1 levels in the serum of children with GH deficiency (GHD).Method: The study group consisted of 76 GH deficient children qualified for GH the...

Background: Cis-gender females are known to mount stronger immune responses to invading pathogens or vaccines than cis-gender males. However, this is also associated with increased risk of autoimmunity. Little is known about the immunophenotypes of transgender individuals on gender-affirming hormonal treatment, despite growing evidence that hormones influence the immune system. Via the process of class-switch recombination (CSR), B-cell immunoglobulin isotype ...

Background: The process of sexual differentiation is critical for reproduction in nearly all metazoan. Defects in any of the genes involved in either testicular or ovarian development can result in disorders of sex development (DSD). CBX2/M33 is a chromatin modifier that plays an important role in sexual development and its disorders, highlighted by the fact that M33-deficient mice have male-to-female sex reversal and loss-of-function of CBX2 causes 46, XY DSD...

The electrolyte disorders are commonly considered as symptoms of the endocrine diseases concerning the secretion of aldosterone or antidiuretic hormone (ADH). This study is the case report of the 6-month-old girl admitted to the hospital because of the exacerbation of the chronic cough. Failure to thrive and malnutrition was also significant despite the patient’s good appetite reported by parents. She was referred to the department of the paediatric endocrinology due to m...

Background: The process of sexual differentiation is critical for reproduction in nearly all metazoan. Defects in any of the genes involved in either testicular or ovarian development can result in disorders of sex development (DSD). CBX2/M33 is a chromatin modifier that plays an important role in sexual development and its disorders, highlighted by the fact that M33-deficient mice have male-to-female sex reversal and loss-of-function of CBX2 causes 46, XY DSD in humans. Human...

Management of DSD is a sensitive area within the field of paediatric endocrinology. On the one hand, major progress has been made in amongst others understanding the molecular genetic background and the germ cell cancer risk of certain DSD conditions. On the other hand, practices that were common in the past, such as early genital surgery have become strongly criticised and controversial nowadays, leaving clinicians as well as patients and their families with a lot of question...

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) was created in collaboration with the European Reference Network on Rare Endocrine Conditions (Endo-ERN), the European Society for Paediatric Endocrinology and the European Society of Endocrinology to support the needs of the endocrine community.Aim: To describe the patient population and data entered in the EuRRECa Core Registry between June 2...