hrp0082p3-d3-847 | Growth (2) | ESPE2014

Multiple Endocrinopathies in a Case with H Syndrome due to a Novel slc29a3 Mutation

Mutlu Gul Yesiltepe , Kirmizibekmez Heves , Ozsu Elif , Zlotogorski Abraham , Hatun Sukru

Background: H syndrome (OMIM #602783) is an autosomal recessive syndrome resulted from mutations in the SLC29A3 gene, encoding hENT3 protein. Characteristic findings are cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hypogonadism, hyperglycemia/diabetes mellitus, cardiac anomalies, hallux valgus and short stature. Herein we report a girl with multiple endocrinopathies due to H syndrome.Case: Ten year and 5 month old girl was referred be...

hrp0095p1-390 | Thyroid | ESPE2022

Does serum thyroglobulin predict thyroxine requirement during infancy in athyreosis and thyroid ectopia?

Kallali Wafa , Neumann David , Jones Jeremy , Hunter Ian , Tasker Anthony , Smith Karen , Shaikh Guftar , Donaldson Malcolm

Background: Thyroglobulin (Tg), a protein synthesized uniquely in the thyroid gland, may be elevated in primary congenital hypothyroidism (CH) due to increased TSH drive, absent in true athyreosis and Tg deficiency, and very elevated in some types of dyshormonogenesis.Hypothesis: Serum Tg at the time of newborn screening may reflect the amount of thyroid tissue present in apparent athyreosis and thyroid ectopia, and henc...

hrp0086p1-p486 | Fat Metabolism and Obesity P1 | ESPE2016

Multidisciplinary Intervention Programme in Childhood Obesity- Review of Service

Jones Jeremy , Wallach Peri , Knoud Ellis , Hind Ruth , Robinson Susan , Morrison Jillian , Shaikh M Guftar

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 ...

hrp0086p1-p890 | Thyroid P1 | ESPE2016

The Molecular Causes of Congenital Hypothyroidism: The Scottish experience

Kourime Mariam , Jones Jeremy , Ansari Aisha , Bradley Therese , Mason Avril , Shaikh Guftar

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=...

hrp0086p1-p923 | Thyroid P1 | ESPE2016

Small Thyroid Volume on Ultrasound in Infants with Transient TSH Elevation Following Referral by Newborn Screening

Mansour Chourouk , Jones Jeremy , Green Morag , Stenhouse Emily , Irwin Greg , Donaldson Malcolm

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...

hrp0082fc13.4 | Thyroid | ESPE2014

The Prevalence of Congenital Malformations in Infants with TSH Elevation on Newborn Screening: the Importance of Distinguishing Between True and Transient Congenital Hypothyroidism

Ouarezki Yasmine , Mansour Chourouk , Jones Jeremy , alghanay Abubaker , Smith Sarah , Stone David , Donaldson Malcolm

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...

hrp0082p2-d1-591 | Thyroid | ESPE2014

Trends in Median Age at Guthrie Sampling, Laboratory Receipt, Notification, and Start of Treatment for Infants with TSH Elevation on Newborn Screening

Mansour Chourouk , Ouarezki Yasmine , Jones Jeremy , Smith Sarah , Donaldson Malcolm , Mason Avril

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...

hrp0084p2-548 | Puberty | ESPE2015

Sensitivity of Measured Parental Height and Target Range in the Diagnosis of Turner Syndrome

Ouarezki Yasmine , Cizmecioglu Filiz , Mansour Chourouk , Jones Jeremy , Gault Emma Jane , Mason Avril , Donaldson Malcolm

Background: Girls with Turner syndrome (TS) are inappropriately short for their parentsÂ’ 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&...

hrp0084p2-558 | Thyroid | ESPE2015

Objective vs Subjective Measurement of Thyroid Volume by Ultrasound in Infants Referred with TSH Elevation on Newborn Screening

Mansour Chourouk , Ouarezki Yasmine , Jones Jeremy , Attaie Morag , Stenhouse Emily , Pohlenz Joachim , Donaldson Malcolm

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...

hrp0097p1-593 | Thyroid | ESPE2023

Congenital malformations in permanent and transient congenital hypothyroidism – prevalence and etiology

Ouarezki Yasmina , Shepherd Sheila , Jones Jeremy , Abubaker Alghanay A , Smith Sarah , Shaikh Guftar , Donaldson Malcolm

Background: An increased prevalence of extra-thyroidal congenital malformations in infants with congenital hypothyroidism (CH) is well established. However, accurate estimation of prevalence figures requires careful distinction between permanent and transient CH. Moreover, the mechanisms resulting in congenital malformations are not well understood.Study aim: To estimate the prevalence of cardiac, extra-cardiac and/or sy...