ESPE Abstracts

Introduction: Multinodular goiter (MNG) is a common disorder of the thyroid gland, characterized by thyroid enlargement due to the development of multiple hyperplastic nodules. It is infrequent in children. Here, we present the case of two families with novel DICER1 mutations and familial history of nodules in adolescence.Observations: A 10-year-old female presented a MNG. TSH, Free T3, Free T4 were in the normal range and thyroid autoantibodies were neg...

Background: Pseudohypoparathyroidism type 1A (PHP1A) and PseudoPHP are caused respectively by maternal and paternal mutations involving those GNAS exons that encode the alpha-subunit of the stimulatory G protein (Gsα). Common to different forms of PHP1B is a loss-of-methylation (LOM) at one or several maternal GNAS exons, which likely reduces Gsα expression in certain tissues. In most autosomal dominant PHP1B variants (AD-PHP1B), LOM is restricted t...

Background: The onset of puberty is influenced by the interplay of stimulating and restraining factors, many of which have a genetic origin. Premature activation of the GnRH secretion in central precocious puberty (CPP) may arise either from gain-of-function mutations of the KISS1 and KISS1R genes or loss-of-function manner mutations of the MKRN3 gene leading to MKRN3 deficiency.Objective and hypotheses: Explore the genetic cau...

Vitamin D dependency rickets type 1B (VDDR-1B) is a rare condition classified as rickets due to inadequate 25-hydroxylation of vitamin D. In this study, we describe rickets and loss-of-function CYP2R1 mutations in 6/10 individuals tested from two unrelated families. Five patients in family 1 (F1) have homozygous L99P mutations; while one member of family 2 (F2) has novel homozygous mutations at G42_L46del insR. The mutations, as well as another variant M248I found in ...

Background: The anogenital distance (AGD) is considered a valid marker of altered androgen action in utero. Recently, reduced AGD has been shown in males with hypospadias, cryptorchidism, reduced semen quality and infertility. It has also been proposed as a new marker to be used by clinicians when managing patients with Disorders of Sex Development. However, little normative data exist and measurement methods vary.Objective and hypotheses: We established...

Background: Congenital hyperinsulinism (CHI) is a rare condition characterized by unregulated secretion of insulin from pancreatic islet β cells. The primary treatment goal is to obtain normoglycemia, since hypoglycemia in the neonatal period can have severe impact on cerebral development.Objective and hypotheses: To assess the cerebral function in children with CHI at follow up.Method: From an international cohort, 40 childre...

Background: POU1F1 encodes a pituitary-specific homeodomain transcription factor that is crucial for development and differentiation of anterior pituitary cell types. Mutations in this gene result in GH, TSH and prolactin (PRL) deficiencies.Objective and hypotheses: To describe a male newborn of a mother with known dominant p.R271W mutation in the POU1F1 gene.Methods: Case report with clinical follow up, endocrine investigations, n...

Background: Diabetes mellitus (DM) is a chronic metabolic disorder requiring daily care to prevent both acute and chronic complications. Intensive support to facilitate coping and self-care skills is advocated. Healthcare providers are challenged to manage the transition of adolescents from paediatric to adult diabetes services.Objective and hypotheses: While centres providing structured integrated paediatric and adult care seem optimal, many patients op...

Background: Anorexia nervosa (AN), a state of chronic nutritional deprivation prevalent in children and young adolescents, is associated with major changes to the hypothalamic–pituitary axis including the GH–IGF1 axis, thyroid function, hypercortisolemia, and hypogonadotropic–hypogonadism, with delayed puberty and a low growth velocity (GV) at a time critical for the pubertal growth spurt, potentially affecting adult height. The effects of supraphysiological hum...

Background: Terminal Xp-deletion causes a variant of Turner syndrome (TS). Several studies described the associated phenotype: gonadal function is generally preserved and short stature is the major clinical feature.Case presentation: We present a family with vertical transmission of TS affecting six women in four subsequent generations. SNP-array indicates that the chromosomal aberration in this family includes terminal Xp-deletion and terminal Xq-duplic...