hrp0095p1-175 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Primary Ovarian Failure as a Result of Homozygous Mutations in MCM10 Gene

Landau Zohar , Florsheim Natan , Simon Itamar , Kramer Joyce , Renbaum Pinchas , Levy-Lahad Efrat , Zangen David

Background: Primary ovarian failure is (POF) characterised by primary amenorrhoea or early menopause in females. Minichromosome maintenance 10 (MCM10) is a gene involved in DNA damage repair, DNA replication and chromatin formation has received attention as a potential genetic etiology for neoplastic disease. Drosophila with mutated MCM10 have subfertility and dysfunction in female germline development. In humans, biallelic mutations of the MCM10 causes NK cel...

hrp0095p1-575 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A novel mutation in the BMP15 gene in a Palestinian family with primary amenorrhea revealing molecular genetics of premature ovarian insufficiency

Abu-Libdeh Abdulsalam , Floresheim Natan , Renbaum Pinchas , Levy-Lahad Ephrat , Zangen David

Background: Severe XX-DSD and ovarian dysgenesis (OD) are the extreme clinical phenotype of approximately 1% of women that are affected by primary ovarian insufficiency (POI). BMP15 and GDF9 are two members of transforming growth factor ß (TGF-β) superfamily; they share an oocyte-specific expression pattern and play a crucial role in early folliculogenesis. Only XX cases of mutations in BMP15 have been proved to cause human disease. Here we describe...

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...

hrp0092fc5.1 | Thyroid | ESPE2019

Randomised Trial of Block and Replace Versus Dose Titration Antithyroid Drug Treatment in Children and Adolescents with Thyrotoxicosis

Wood Claire , Cole Michael , Donaldson Malcolm , Dunger David , Matthews John , Pearce Simon , Cheetham Tim

Background: First line treatment for thyrotoxicosis is thionamide (TA) antithyroid drug therapy. The TA used is usually Carbimazole in the UK. TA can be administered in a relatively large 'blocking' dose that prevents endogenous thyroid hormone synthesis, requiring thyroid hormone replacement (block and replace or BR), or in a smaller dose that renders the patient euthyroid (dose titration or DT). The American Thyroid Association (ATA) recommends DT be...

hrp0092fc11.3 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

A Novel Genetic Aetiology for Familial Neonatal Central Diabetes Insipidus

lavi Eran , Sharaf Muna , Abu-Libdeh Abdulsalam , Renbaum Pinchas , Levy-Lahad Ephrat , Zangen David

Background: Central diabetes insipidus (CDI) in the neonatal age is usually a result of intracranial insult, either congenital or acquired. Familial CDI is usually an autosomal dominant disorder, presenting later in childhood (1-6 y) with polyuria and mostly caused by mutations in the Neurophysin II moiety of the AVP-NPII prohormone gene; these interfere with prohormone processing leading to gradual destruction of AVP secreting cells and result in arginine vas...

hrp0092rfc2.3 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Growth Hormone Effects on Metacarpal Bone Geometry and Bone Age in Growth Hormone-Deficient Children

Martin David D , Ranke Michael B , Henrik Thodberg Hans , Binder Gerhard

Purpose: To track the effects of growth hormone on bone geometry and maturation in children with isolated growth hormone deficiency (GHD).Methods: 299 left hand X-rays from 77 short prepubertal children (54 boys and 23 girls) with isolated GHD were analysed for changes in metacarpal thickness, width, length, medullary diameter, the Bone Health Index (BHI) and bone age (BA) from one year preceding until four years after s...

hrp0092rfc3.3 | Multi-system Endocrine Disorders | ESPE2019

The Founder Homozygous NR5A1 Gene Mutation p.R103Q Causes Asplenia and Severe XY-DSD and XX-DSD in a Palestinian Cohort

Abdulhadi-Atwan Maha , Hidesh Guy , Abulibdeh Abdulsalam , Hirsch Harry , Klopstock Tehila , Levy-Lahad Ephrat , Zangen David

Background: Mutations in Steroidogenic factor 1 (SF-1; also known as NR5A1), a transcription factor involved in sexual differentiation, steroidogenesis and reproduction, have been associated with mild to severe XY and XX DSDs and adrenal failure. Asplenia and complete XY sex reversal were recently reported in a Palestinian patient homozygous for p.R103Q NR5A1 mutation.Clinical Cases: Five Pales...

hrp0092p1-299 | Adrenals and HPA Axis (2) | ESPE2019

Medical Identification Jewellery Use in Children and Young Adults with Adrenal Insufficiency

Chrisp Georgina , Falhammar Henrik , Quartararo Maria , Torpy David , Rushworth R. Louise

Background: Adrenal insufficiency (AI) is a rare disorder in the paediatric population. Patients are at risk of an adrenal crisis (AC), which comprises hypotension, acute abdominal symptoms, reduced consciousness, hypoglycaemia, hyperkalaemia and hyponatremia. Immediate administration of parenteral hydrocortisone is essential to prevent AC progression but delays may occur when health attendants are unaware of the underlying AI diagnosis. Medical jewellery is a...

hrp0092p1-352 | Fat, Metabolism and Obesity (2) | ESPE2019

Paediatric Patients with Type 1 Diabetes Mellitus Exhibit Reduced Brown Adipose Tissue Heat Signature Following Cold Stimulation

Law James , Morris David E. , Robinson Lindsay , Randell Tabitha , Denvir Louise , Symonds Michael E. , Budge Helen

Brown adipose tissue (BAT) is a key component of the body's defence against cold challenge and possesses the ability to convert large amounts of chemical energy to heat, conferred by a unique protein, uncoupling protein (UCP)-1, diverting mitochondrial respiration from the production of adenosine triphosphate. In humans, the largest BAT depot is in the supraclavicular region. Sympathetic nervous system stimulation induces glucose uptake into brown adipose tissue, as does i...

hrp0092p1-375 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

SOAR Study: New Approaches to Managing Social Skills Deficits in Turner Syndrome

Wolstencroft Jeanne , Kerry Eleanor , Denyer Hayley , Watkins Alice , Mandy William , Skuse David

Background: Turner Syndrome (TS) is a sex chromosome aneuploidy (45,X) associated with social skill difficulties. The 2016 Cincinnati clinical care guidelines recommend that the Program for the Education and Enrichment of Relational Skills (PEERS) social skills intervention is piloted. PEERS has previously been used in face-to-face interventions with male adolescents with autism spectrum conditions. This pilot project will be the first to examine the feasibili...