hrp0095p1-423 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

A case report investigating hereditary hypophosphataemic rickets with hypercalcuria (HHRH), a suspected novel mutation and the FGF23 ‘red herring’

Hester Holly , Mushtaq Talat

Objective: To explore the clinical manifestation of a case of hereditary hypophosphataemic rickets with hypercalcuria (HHRH), describe a potentially novel mutation and identify key learning points in the diagnosis and management.Background: Inherited forms of hypophosphoatameic rickets such as XLH have phosphaturia, often mediated by elevated FGF-23 levels and low or inappropriately normal 1,25 OHD levels. Conversely, in...

hrp0089p2-p316 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Gonadotropin Levels and Frequency of Testosterone Supplementation in Adolescents with Klinefelter Syndrome

Tseretopoulou Xanthippi , Mushtaq Talat

Background: Klinefelter syndrome (XXY) is characterised by sex hormone aneuploidy. It is one the most common causes of primary hypogonadism, impaired spermatogenesis and testosterone deficiency. It affects around 1 in 500 phenotypic males. Approximately 25% of the patients are diagnosed in childhood. The hallmark of the condition is the small volume of the testicles and azoospermia. Most adolescent progress through puberty at the expense of elevated gonadotrophins.<p class...

hrp0086p2-p90 | Adrenal P2 | ESPE2016

A Genetic Diagnosis of Familial Glucocorticoid Deficiency Resulting in Cessation of Long-term Mineralocorticoid Treatment in Three Siblings

Cottrell Emily , Mushtaq Talat

Background: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterised by ACTH resistance and leads to isolated glucocorticoid deficiency. Mutations in the gene encoding the ACTH receptor (MC2R) are responsible for around 25% of cases.Case report: The female index case was hyperpigmented at birth. At one week of age her ACTH level was >1200 ng/ml, plasma renin activity (PRA) 11.4 pmol/ml/h with an aldosterone of 520...

hrp0089p2-p214 | GH &amp; IGFs P2 | ESPE2018

Incidence of Cranial MRI Abnormalities in Patients with Isolated Growth Hormone Deficiency: 20 Years of Results

Amin Nadia , Biliaieva Kateryna , Mushtaq Talat

Background: Patients with isolated growth hormone deficiency (GHD) will routinely have an MRI scan of the pituitary and brain to assess pituitary size and presence of any intracranial lesions. The result may change the threshold for monitoring for further hormone deficiencies. However the test may also detect unexpected or unrelated abnormalitiesAim: To review the incidence of normal and abnormal MRI scans in children with a diagnosis of isolated GHD.</p...

hrp0089p3-p055 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

The British OsteoNEcrosis Study: A Multi-centre Prospective Study

Amin Nadia , James Beki , Feltbower Richard , Mushtaq Talat , Kinsey Sally

Introduction: Osteonecrosis can be a debilitating consequence of treatment for acute lymphoblastic leukaemia (ALL), most commonly affecting patients aged between 10 and 20 years at diagnosis of malignancy. Patients may have asymptomatic lesions that spontaneously regress, and little is known about the natural history of lesions. There is also limited understanding of the relationship between osteonecrosis and other markers of bone health.Aims: The aims o...

hrp0084p3-1174 | Thyroid | ESPE2015

The Impact on Families of Receiving a Diagnosis of Congenital Hypothyroidism

Alvi Sabah , Priestley Julia , Whitehead Amanda , Walker Jenny , Mushtaq Talat

Background: Congenital hypothyroidism (CHT) may be viewed as a relatively easy condition to diagnose and treat. However, for the parents who are contacted with the neonatal screening results the news can be devastating, and the quality of information provided can be very variable.Objective and hypotheses: We aimed to explore the experience of parents at the time of diagnosis, and ascertain how we could improve this.Methods: In asso...

hrp0086p1-p27 | Adrenal P1 | ESPE2016

Beckwith-Wiedemann Syndrome and Bilateral Phaeochromocytoma: A Diagnostic Challenge

Cottrell Emily , Glaser Adam , Blackburn Mike , Alvi Sabah , Mushtaq Talat , Squire Roland , Steele Caroline

Background: Beckwith-Wiedemann Syndrome (BWS) is a rare overgrowth disorder secondary to various mutations in growth-regulatory genes on chromosome 11p15.5. A well-established association exists between BWS and both benign and malignant tumours, most commonly Wilms’ tumour and hepatoblastoma. We present a less frequently described diagnosis of bilateral phaeochromocytoma in association with BWS.Case report: We report the case of a 14-year-old girl w...

hrp0084p1-71 | Fat | ESPE2015

Identifying Critical Periods for Maintaining Weight Loss in Obese Children

Peacock Amanda , Mushtaq Talat , Alexander Erin , Truby Helen , Greenwood Darren , Russo Vince , Yau Steven , Werther George , Sabin Matthew

Background: Adults have a weight that is normal for them. This is referred to as their ‘set-point’ for weight. Studies have shown physiological protection of this set-point, explaining why most obese adults who diet eventually regain weight.Objective and hypotheses: We hypothesised that set-points for weight, and their physiological defence, are flexible in childhood but become fixed sometime around puberty. We aimed to show that obese children...

hrp0084p2-323 | DSD | ESPE2015

Chromosomal Variations in Children and Adolescents with Gender Dysphoria: Is Routine Karyotyping Indicated?

Goedhart Claire , Brain Caroline , Viner Russell M , Alvi Sabah , Mushtaq Talat , Walker Jenny , Carmichael Polly , Butler Gary

Background: Chromosome analysis is always indicated in disorders of sex development (DSD), but the need for karyotyping in gender dysphoria (GD) is less clear.Aims and objectives: We therefore aimed to review the place of routine chromosome analysis in the management of GD in children and adolescents.Patients and methods: 490 children and adolescents with GD have been referred to the two endocrine clinics forming part of the joint ...