ESPE Abstracts

Background: Congenital central hypothyroidism (CeH) may occur isolated, or in combination with other pituitary hormone deficiencies. Although a third causative gene for CeH was recently reported (IGSF1), the aetiology of isolated CeH has remained unexplained in most cases.Objective and hypotheses: We hypothesized that in three relatives with unexplained isolated CeH a mutation in another gene might be responsible for the phenotype.<p class="...

Background: Psychosocial factors may be fundamental explaining poor glycaemic control in children with type 1 diabetes (T1DM). Anxiety, depression are well described in children with T1DM. According to Kauffman (2012), diabetes management can only be successful if psychosocial needs are assessed and addressed.Objective and hypotheses: To examine the association between glycaemic control and scores on two screening tools measuring psychosocial risk and em...

Background: Endocrine disruptors (ED) are chemicals that can mimic hormones and interfere with their receptors, causing endocrinological abnormalities.Clinical report: We present the case of a previously healthy, melanodermic, two-year-old female, who had a three-month evolution of clitoromegaly and generalized hypertrichosis. Endocrine blood work showed suppressed serum androgens suggesting steroid exogenous contact. Karyotype, bone age...

Background: A positive relationship between an individual surgeon’s operative volume and clinical outcomes after paediatric and adult thyroidectomy is well-established. The impact of a hospital’s paediatric operative volume on surgical outcomes and healthcare utilisation, however, are infrequently reported. We investigated associations between hospital volume and healthcare utilisation outcomes following paediatric thyroidectomy in Canada’s larg...

Down syndrome (DS) is characterized by a higher incidence of congenital hypothyroidism (CH) and a high prevalence of subclinical hypothyroidism (SH) early in life. Children and adults with DS have an increased risk of developing autoimmune thyroid disease, however CH and early SH cannot be explained by thyroid autoimmunity. The etiology of CH and early SH in DS remains to be elucidated. Considering the recently discovered genome-wide transcriptional and epigenetic alterations ...

Rationale: Bronchopulmonary dysplasia (BPD) is a common complication after preterm birth that is associated with neurodevelopmental impairment. Neurofilament light chain (NfL) has been identified as a biomarker for neuroaxonal damage in preterm infants, but its relation with BPD has not yet been established. We hypothesized that BPD is associated with increased NfL levels at an early stage, indicative of early neuroaxonal damage....

Context: For transgender women undergoing gender-affirming hormone therapy (HT), breast development is an important treatment outcome. Since earlier studies showed small breast volumes in trans women treated with HT, we hypothesized that testosterone exposure during puberty might negatively influence breast development and that early initiation of puberty suppression (PS) might have a positive effect on breast development.Aim:</s...

Context: Congenital hypothyroidism from thyroid dysgenesis (CHTD) is mainly a sporadic and non-syndromic condition occurring in 1:4,000 live births. In contrast to rare cases of syndromic monogenic CHTD, non-syndromic (NS) CHTD shows low familial recurrence risk (~2%) and low concordance rate between MZ twins, suggesting a two-hit scenario combining post-zygotic events with either a de novo monogenic mutation or incomplete penetrance of polyg...

Background: The hypothalamus-pituitary-adrenal (HPA) axis displays a diurnal rhythm, peaking in the morning and with a nadir at night. However, not much is known about the development of the HPA- axis, although strikingly some evidence suggests that a rhythm with a peak in the afternoon is already present antenatally. We aimed to describe HPA-axis activity at age 1 month as well as study possible influencing factors.Methods</stro...

Introduction: Limited, small-scale studies have revealed that men with proximal hypospadias (HS) or with other signs of undermasculinisation (i.e. complex HS) are at risk of reduced fertility and/or impaired testicular hormone synthesis. However, the extent of this phenomenon and if milder forms of isolated HS are also affected, remains unclear.Aims: To explore reproductive hormones and semen quality of young men (16-21 ...