hrp0095p2-194 | Growth and Syndromes | ESPE2022

Growth hormone deficiency and SHOX variants present in 2 siblings short for the family target

Lim Sharon

P1 was referred with short stature aged 2.4 yrs (HtSDS -2.1). Mother’s height 165 cm (+0.5 SD), father’s 185 cm (+1.55 SD). Growth hormone (GH) deficiency was diagnosed following two GH stimulation tests (Peak GH 6.8 ng/ml at 3.2 yrs, 5.17 ng/ml at 3.7 yrs) IGF1 4.6 nmol/l (1.7-27.6) at 2.5 yrs. Pituitary MRI was normal. GH treatment was started at 5 years at HtSD –2.2. Once P1 demonstrated catchup growth (up one centile in 7 months), P1’s older sister ...

hrp0092p3-212 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Two Separate Pathologies (Coeliac Disease and Central Precocious Puberty) Associated with Catch-Up Growth in the Case of a Child Born Small for Gestational Age (SGA)

Lim Sharon

Case: MMW was born at 39 weeks by elective caesarian section because of placenta praevia with a birth weight of 2.32kg.She was known to dietetics and medical services because of failure to thrive and short stature (BMI SDS -3.32, Height SDS -2.21). Due to chronic upper airways obstruction, she had a tonsillectomy at aged 2.5 yrs. Following this, appetite and weight improved (BMI SDS -1.3) but abdominal pains prompted blood investigations which revealed positiv...

hrp0092p3-214 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Central Precocious Puberty in a 2 Year-Old with No Sinister Cause

Lim Sharon

Background: The causes of most cases in girls with central precocious puberty is idiopathic, and tend to be older compared with neurogenic causes. When confronted with a very young child with sexual precosity, full endocrine work up is necessary and there is no doubt for the need to treat.Case: SG presented at the age of 2.6 years with thelarche and pubarche for one month. As her mother is tall (175cm, 97th centile), she...

hrp0089p3-p256 | Growth & Syndromes P3 | ESPE2018

Low Dose Growth Hormone using IGF1 Dose Titration is Associated with Sustained Optimal Growth in a Child with Both Turner and Down Syndrome

Lim Sharon

Background: Short stature occurs in both Trisomy 21 and Turner syndrome. This unusual case has a de novo mutation of 47,X,del(X)(p22.3),+21 with clinical features of both syndromes. Growth assessment data and investigations was previously discussed in ESPE2016.Case: Following growth assessment due to parental concern that her short stature was too short for either syndrome and a falling height velocity of 3.5 cm/year at 2.8 years, the decision was made t...

hrp0086p2-p858 | Syndromes: Mechanisms and Management P2 | ESPE2016

Central Precocious Puberty in a Case of SOTOS Syndrome

Lim Sharon

Background: Statural overgrowth in SOTOS syndrome is well recognised. However excessive growth away from the usual growth trajectory should prompt assessment for other causes of growth acceleration.Case: TE was referred for a growth assessment at 6.8 years as he appeared to have grown more in the previous year. He was 142.9 cm (Ht SDS +4.32), weight 44.4kg (BMI SDS +2.85). He had no formal genetic diagnosis except that he was clearly dysmorphic with glob...

hrp0086p2-p867 | Syndromes: Mechanisms and Management P2 | ESPE2016

Growth Hormone Treatment in a Child with Trisomy 21 and Turner Mosaicism

Lim Sharon

Background: Short stature occurs in Trisomy 21 but it is relatively slight during childhood. Turner syndrome would contribute significantly to short stature but the combined occurrence of both syndromes, even Turner mosaicism is unusual and could result in significant short stature.Case: SP was referred for a growth assessment at 2.5 years. Her parents were counselled about short stature occurring in both syndromes but were worried that her height was si...

hrp0082p3-d2-993 | Thyroid (1) | ESPE2014

Raised Free Thyroxine Levels in a Boy with Hypertension

Lim Sharon

Background: Raised free thyroxine levels in blood results are not unusual in adults. This may be due to protein or drug interference with laboratory assays. However this phenomenon can occur in children depending on the assay method used.Case: An 8-year-old boy with a strong family history of essential hypertension and raised BMI was admitted for fixation of a fracture of his right forearm after falling off a roundabout. Routine blood pressure monitoring...

hrp0084p2-369 | Fat | ESPE2015

Childhood Obesity and Normocalcaemia with a GNAS Mutation also Present in Mother

Lim Sharon

Background: Assessment in childhood obesity includes looking for obesity syndromes. Dysmorphic features should guide investigations. When clinical signs are subtle, genetic investigations aide diagnosis. A case (S) of progressive childhood obesity is described. He was found to have a pathogenic GNAS mutation which was also present in his mother. Both mother and son had a similar phenotype and did not have hypocalcaemia or PTH resistance described in pseudohypoparathyr...

hrp0084p2-283 | Diabetes | ESPE2015

Variables in Diabetic Children and Adolescents Associated with High, Acceptable and Low Range of Glycosylated Haemoglobin in a DGH Setting – An Analysis

Manoharan Karthi , Thomas Rachel , Lim Sharon

Background: Diabetes education empowers children and adolescents with diabetes to acquire practical skills in problem-solving and goal-setting to improve self sufficiency. Our aim was to identify variables that have an the impact on diabetes control in terms of psychosocial wellbeing and glycosylated haemoglobin (HbA1c).Objectives and hypotheses: To compare the level of understanding & knowledge of diabetes between three groups of diabetic children. ...

hrp0094p2-289 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Familial Mosaic Turner Syndrome with short stature and spontaneous puberty due to a ring X chromosome with distal Xp22.3 and distal Xq26 deletion

Lim Sharon , Brain Caroline , Lees Melissa , Gevers Evelien ,

Abnormal phenotypes in patients with ring chromosome X can be ascribed to failed or partial X inactivation due to loss of XIST on Xq13. We describe a mother and 1 daughter with the same mosaic karyotype, and another daughter with 45, X. KZ, 12 years old and recently moved from Poland, was investigated for short stature (Ht SDS -2.1), her mother was 142.9 cm, father 176.1cm. Both were healthy and not dysmorphic. Birth weight at 37 weeks was 2.63kg (20th centile Polis...