ESPE Abstracts

Introduction: PTH is one of the principal regulatory hormones for calcium and phosphate homeostasis. Hypoparathyroidism, caused by reduced parathyroid hormone (PTH) concentration is characterised by hypocalcemia and hyperphosphataemia. Hypoparathyroidism in children can occur either as part of a genetic syndrome, autoimmune disorder, be acquired secondarily to thyroidectomy or some destructive process of the glands. If the reason for decreased PTH concentration is unknown, it ...

Introduction: Congenital adrenal hyperplasia (CAH) is the underlying diagnosis in most newborns presenting with 46,XX disorders of sex development (DSD). Cytochrome P450 oxidoreductase deficiency (PORD) is a rare form of CAH caused by inactivating mutations in the POR gene. POR is a crucial electron donor to all microsomal type 2 P450 cytochromes (CYPs), including 21-hydroxylase (CYP21A2) and 17alpha-hydroxylase (CYP17A1). The hallmark feature of PORD is combined sex-steroid a...

Background: Thyroglobulin (Tg) is exclusively synthesised by thyroid tissue and a potentially useful aid to diagnosis in congenital hypothyroidism (CH). However, its role has yet to be fully evaluated.Objective: To examine the sensitivity and specificity of Tg in helping define the etiology of CH.Patients and methods: Tg was measured in a single laboratory by Immulite 2000 chemiluminescent immunometric assay (CVs 9.8, 5.7 and 5.7% ...

Background: A multidisciplinary team (MDT) intervention may improve severe obesity in children through education and life-style change.Objective and hypotheses: MDT intervention leads to improvements in clinical measures of obesity.Method: Participants were selected by criteria: <16 years old; BMI >3.5SDS or BMI >2.5 SDS with obesity-related co-morbidity. Children and their families, attended intervention sessions over ...

Background: Inherited forms of congenital hypothyroidism (CH) account for approximately one quarter of all causes of CH. These include biosynthetic defects and developmental and morphological abnormalities.Objective: Describe the Scottish experience of genetic testing in CH.Method: Retrospective study over 37 years up to March 2016. Patients were selected on the basis of imaging findings or strong family history of CH.<p class=...

Background: Infants referred with elevation of capillary TSH on newborn screening are classified as having transient TSH elevation when subsequently found to have normal venous thyroid function tests off treatment with thyroxine. Causes of transient TSH elevation include neonatal sickness, prematurity and maternal thyroid antibodies. There is little information on thyroid size in such infants.Objective: To determine thyroid volume by ultrasound in infant...

Backgrounds: The prevalence of congenital malformations (CM) is higher in infants referred with capillary (c) TSH elevation on newborn screening. However, establishing the prevalence of CM ± dysmorphic syndromes in true congenital hypothyroidism (CH) requires careful distinction between true and transient CH.Objective: To determine the prevalence of CM ± dysmorphic syndromes in all infants referred with TSH elevation on newborn screening in Sco...

Background: Screening for congenital hypothyroidism (CH) has virtually eradicated the severe mental handicap associated with late or absent treatment. We have previously reported two audits of newborn screening for CH between 1979 and 2003 showing significant improvement from the first to more recent period.Objective and hypotheses: We aimed to audit the period 2004–2013 and report trends in timing of sampling, laboratory processing, delay between f...

Background: Girls with Turner syndrome (TS) are inappropriately short for their parents’ heights; measured parental height is therefore useful in diagnosis.Objective and hypotheses: To examine the sensitivity of measured parental height in the diagnosis of TS; and to audit the frequency of parental height measurement in our clinic.Method: Case note review of all girls with TS attending our dedicated Turner clinic between 1989&...

Background: Establishing thyroid size as large, normal or small in newborn infants with TSH elevation and in situ thyroid is important for diagnosis and informing molecular genetic studies.Objective and hypotheses: To compare intra-observer variation in the objective (Ox) measurement of thyroid volume (vol) by ultrasound (US); and the correlation between subjective (Sx) and Ox assessment.Method: Joint blinded retrospective...