Searchable abstracts of presentations at key conferences in endocrinology

ea0058p037 | Miscellaneous Endocrinology | BSPED2018

PTRF novel mutation causing congenital generalized lypodistrophy type 4

Martinez Ana Sastre , Willemsen Ruben

Introduction: Congenital generalized lipodystrophy (CGL) is a heterogeneous, rare, monogenic condition, characterized by loss of subcutaneous fat, muscular hypertrophy, acanthosis, hepatomegaly and impaired lipid metabolism. Four types have been identified, caused by mutations in AGPAT2, BSCL2, CAV1 and, PTRF, respectively. Mutations in PTRF cause CGL type 4, characterized by muscular dystrophy, myopathy, cervical spine instability,...

ea0095p57 | Miscellaneous/other 1 | BSPED2023

Endocrine complications in paediatric patients with transfusion-dependent thalassaemia

Ko Wan Yee , Kaya Banu , Willemsen Ruben

Introduction: Endocrine complications are common in patients with thalassaemia major. Currently, there is no literature studying the prevalence of endocrine abnormalities within a British cohort of children with transfusion-dependent thalassaemia. Existing literature is mostly based on Greek and other Mediterranean thalassaemia populations, and variations in local management guidelines may result in different clinical outcomes. This study aimed to audit recomm...

ea0078p26 | Diabetes | BSPED2021

HbA1c and attendance before and after transition to adult diabetes service: a transition audit

Birss Matthew , Huda Bobby , Glynn Nigel , Willemsen Ruben

Background: The transition period is a challenging time for adolescents and is frequently associated with deterioration of HbA1c, decreased attendance, and disengagement from services. Two London hospitals both have existing transition programs to facilitate the movement of patients with diabetes from paediatric to adult care services.Aim: This audit aimed to assess mean HbA1c values, HbA1c monitoring frequency, and appointments offered and attended in t...

ea0078OC5.1 | Oral Communications 5 | BSPED2021

Evaluating UK Referral Criteria for Children with Short Stature in a Tertiary Paediatric Endocrinology Centre

White Gemma , Cosier Shakira , Andrews Afiya , Willemsen Ruben H. , Savage Martin O. , Storr Helen L.

Background: Childhood growth monitoring aims to identify growth failure and detect underlying pathology. According to UK guidance, height <-2.7 standard deviation score (SDS) (<0.4th percentile) is used as the referral threshold. Additional referral criteria include height deficit (HSDS-target height SDS) <-2.0 and height velocity (HV) SDS <-1.3. Lack of routine HV and mid-parental height calculation, combined with stricter cut-offs compared to other European c...

ea0078p53 | Pituitary and Growth | BSPED2021

SGA, short stature, brachydactyly and joint stiffness due to SMAD4 variants in Myhre syndrome

Ramakrishnan Anand , Yakoop Silvia , Lim Sharon , Willemsen Ruben , Calder Alistair , Gevers Evelien

We present 3 children in a single centre with Myhre syndrome (MS) due to a heterozygous SMAD4 Ile500val mutation. Consistent features were brachydactyly, joint restriction, muscular hypertrophy, genital abnormalities, conductive hearing loss and developmental delay. SGA and height were variable. Diagnosis was made by next generation sequencing in patients 1 and 3 and on the skeletal survey in patient 2. Retrospectively, features of Myhre syndrome were present on the s...

ea0095oc3.1 | Oral Communications 3 | BSPED2023

The first description of an MC4R variant in a patient with Kallmann syndrome and obesity

A Aslam Aisha , Lim Sharon , Willemsen Ruben , R Howard Sasha , Gevers Evelien

Introduction: Pathogenic MC4R variants result in hyperphagia and early onset obesity but puberty is not usually affected. We describe an MC4R variant in a patient with Kallmann syndrome and obesity.Case: A 16 year old male with repaired Tetralogy of Fallot, anosmia, autism and anxiety, was referred with obesity and delayed puberty. Height was -1.31 SDS, BMI 30.7 kg/m2. He had a high arched palate, normal skin, normal hai...

ea0085oc5.2 | Oral Communications 5 | BSPED2022

Central Delayed Puberty in Adolescence: Differentiating the phenotypes of Congenital Hypogonadotropic Hypogonadism and Self-Limited Delayed Puberty

Kokotsis Vasilis , Burchett Caroline , Butler Gary , Dattani Mehul , Hughes Claire , McGuigan Michael , Shah Pratik , Willemsen Ruben , Howard Sasha

Congenital hypogonadotropic hypogonadism (CHH) is a pathological condition characterised by lack of pubertal onset and must be differentiated from self-limited delayed puberty (SLDP). There is a significant overlap between these two conditions both in clinical and biochemical features, with current diagnostic approaches lacking sensitivity. Thus, paediatric endocrine clinicians are faced with difficulty in ascertaining the correct diagnosis in adolescence. The presence of cert...

ea0095oc5.2 | Oral Communications 5 | BSPED2023

Gonadotropin treatment for the induction or completion of puberty for males with hypogonadotropic hypogonadism; Two Centre Experience

Kyla Ng Yin Dr , Leo Dunkel Professor , Claire Hughes Dr , Tony Hulse Dr , Evelien Gevers Dr , Lee Martin Mr , Rathi Prasad Dr , Ruben Willemsen Dr , Gary Butler Professor , Howard Dr Sasha

Background: Hypogonadotropic hypogonadism (HH) is a key cause of absent, partial, or arrested puberty. Individuals with HH experience central disorders of the hypothalamic-pituitary-gonadal (HPG) axis, with deficiency in gonadotropin-releasing hormone (GnRH). This leads to inadequate pituitary gonadotropins (luteinising hormone (LH) and follicle-stimulating hormone (FSH)), resulting in immature gonadal development. It has substantial consequences including inf...