Searchable abstracts of presentations at key conferences in endocrinology

Endocrine Abstracts

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ea0051p017 | Gonadal, DSD and reproduction | BSPED2017

Turner syndrome transition - audit of paediatric clinic, RHC Glasgow

Abbas Joshua , Mason Avril

Background: Turner syndrome is a lifelong condition that requires lifelong engagement with health services. The Paediatric Endocrinologist has a role in developing a plan for transition and establishing follow-up in an adult clinic. A clinic proforma outlining expected investigations during transition has been in use in the Glasgow Turner clinic since 2015 based on the recommendations of the Turner Syndrome Study Group. More recently The Endocrine Society Transition Toolkit ha...
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ea0050cc07 | Featured Clinical Cases | SFEBES2017

Case report of MAX mutation causing bilateral phaeochromocytoma

Nazareth Joshua , Levy MIles , Barwell Julian

Background: Patients with Phaeochromocytomas (PCC) have been found to carry germline mutations in 40% of cases. The number of known susceptibility genes has risen sharply in recent times, from six to sixteen since 2009. We present a patient who was found to have a mutation in Myc Associated Protein X (MAX), one of the newly identified inherited susceptibility genes.Case Presentation: A 16-year-old female presented with paroxysmal episodes suggestive of c...
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ea0050cc07 | Featured Clinical Cases | SFEBES2017

Case report of MAX mutation causing bilateral phaeochromocytoma

Nazareth Joshua , Levy MIles , Barwell Julian

Background: Patients with Phaeochromocytomas (PCC) have been found to carry germline mutations in 40% of cases. The number of known susceptibility genes has risen sharply in recent times, from six to sixteen since 2009. We present a patient who was found to have a mutation in Myc Associated Protein X (MAX), one of the newly identified inherited susceptibility genes.Case Presentation: A 16-year-old female presented with paroxysmal episodes suggestive of c...
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ea0044p21 | Adrenal and Steroids | SFEBES2016

Diagnosis of adrenal sufficiency using a highly specific cortisol immunoassay: Major implications for clinicians

Kline Gregory , Buse Joshua , Krause Richard

Context: Recent guidelines recommend a diagnosis of adrenal insufficiency when stimulated peak cortisol level falls below 500 nmol/l. This may not be valid when using a highly specific cortisol immunoassay or cortisol measured by liquid chromatography-mass spectroscopy.Objective: Determine the diagnostic threshold for adrenal insufficiency using a highly specific cortisol assay.Design: For 4 months, all subjects having a dynamic te...
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ea0095p47 | Gonadal, DSD and Reproduction 1 | BSPED2023

A rare cause of gonadal dysgenesis due to TOE1 gene mutation

ibrahim Mohsina Noor , Yasir Meherunnisa , Khan Yasirnaqi , Chachar Saadullah , Parveen Roshia , Riaz Maira , Rai Versha

Introduction: 46XY gonadal dysgenesis is one of the important cause of DSD with varied clinical presentation Genetic mutations like SRY, NR5A1, SOX9, DHX37 are common mutations that can cause gonadal dysgenesis. Genetic testing for reaching final diagnosis in 46 XY DSD is increasingly playing a crucial role in the management plan.Case: A 10-month-old patient presented in our DSD clinic with complaint of atypical genitali...
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ea0095p151 | Pituitary and Growth 2 | BSPED2023

Evaluation of etiology and clinical feature of precocious puberty among children presenting in a pediatric endocrinology department in a tertiary care hospital

Roshia Parveen , Versha Rani Rai , Mohsina Noor Ibrahim , Maira Riaz , Yasir Naqi Khan , Heeranand Rathore

Background: Precocious puberty is thought to occur in 1 in 5000–10 000 people. Precocious puberty is a neglected topic in Pakistan, and little research has been done so far to examine its aetiology in our population, despite its importance and relative prevalence. Objective: To find the frequency of precocious puberty in children and to compare the clinical and laboratory parameters of central and peripheral precocious puberty. M...
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ea0095p6 | Adrenal 1 | BSPED2023

Bone mineral density in children with congenital adrenal hyperplasia presenting to tertiary care hospital from LMIC

Karishma Rahak , Mohsina Noor Ibrahim , Versha Rani Rai , Maira Riaz , Roshia Parveen , Heeranand Rathore

Background: C Treatment in all forms of CAH includes lifelong replacement of steroids. Steroids have an impact on bone health in multiple ways and are known to cause osteoporosis when given in high doses or for a longer duration. Objective: To evaluate bone mineral density (BMD), using dual-energy X-ray absorptiometry (DEXA) scan in children with CAH taking long-term steroids presenting in the pediatric endocrinology war...
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ea0095p128 | Gonadal, DSD and Reproduction 2 | BSPED2023

Challenging clinical scenario: Germ cell tumor masquerading as peripheral precocious puberty in a one-year-old boy from Pakistan

Versha Rani Rai , Mohsina Noor Ibrahim , Sanagar Ali , Maira Riaz , Roshia Parveen , Mehrunnisa Yasir

Peripheral precocious puberty (PPP) in males is a rare condition characterized by the premature activation of the hypothalamic–pituitary–gonadal axis, resulting in the early onset of secondary sexual characteristics. We present the case of a one-year-old boy from Pakistan who exhibited PPP along with a left hip region mass.The patient’s initial workup revealed remarkably elevated levels of beta-human chorionic gonadotropin (Bhcg) and serum alphafetoprotein (AFP), indicating po...
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ea0094p5 | Adrenal and Cardiovascular | SFEBES2023

Salivary Steroid Profile: the simultaneous quantification of androgens, glucocorticoids, and mineralocorticoids in human saliva

Bain Joshua , Gilligan Lorna , Hawley James , Taylor Angela

Steroid profiling of biological fluids has been used for clinical and diagnostic research since the 1950s. Most methods focus on blood and urine, however, more recently saliva analysis has been employed as a non-invasive, simple to collect sample for the diagnosis of conditions such as Cushing’s and androgen excess. Despite its ease of collection, saliva remains an underutilised biofluid. To investigate the use of salivary steroid profiling for endocrine research, we aimed to ...
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ea0077lb19 | Late Breaking | SFEBES2021

Post noradrenaline infusion induced gangrene of the toes

Ahmed Suhail , Ahmed Khan Shahid , Ajay Joshua , Dave Mika , Kumar Satish , Dashora Umesh Kumar

Noradrenaline (NE) is a peripheral vasoconstrictor reducing mortality by 11% and major adverse events by two-thirds compared to dopamine [1]. NE acts as an agonist at alpha1 and beta1 receptors, with little-to-no beta2 or alpha2 activity. This vasoconstriction effect can be potent and can result in completely occluded blood vessels more frequently in the peripheries due to lower blood pressure. Septic shock accounts for nearly 1 in 10 admissions to ICU, where it is the most co...
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Published by BioScientifica

Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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