Searchable abstracts of presentations at key conferences in endocrinology

ea0094p108 | Reproductive Endocrinology | SFEBES2023

A comprehensive transethnic metabolomic analysis in women with PCOS in the born in bradford (BiB) study

Deshmukh Harshal , Sathyapalan Thozhukat

Introduction: Polycystic ovary syndrome (PCOS) is the most prevalent endocrine and metabolic disorder of women of reproductive age. Comprehensive metabolic profiling of women with PCOS across different ethnicities will help in understanding the pathophysiology of this condition.Methods: The Born in Bradford (BiB) study is a UK longitudinal birth cohort. Profiling of circulating lipids, fatty acids, and metabolites was do...

ea0082oc4 | Oral Communications | SFEEU2022

Barakat syndrome: A rare cause of primary hypoparathyroidism

Mark-Wagstaff Charlotte , Sathyapalan Thozhukat , Deshmukh Harshal

Case history: A 54-year-old lady was diagnosed with primary hypoparathyroidism in 2006, after being referred by her Rheumatologist as her father and brother had familial hypoparathyroidism and sensorineural deafness. She was followed up in endocrine clinic for management of primary hypoparathyroidism. Her hypocalcaemia is well managed with calcium supplementation, with no specific symptoms of hypocalcaemia. She has recurrent urinary tract infections with known borderline chro...

ea0091wa9 | Workshop A: Disorders of the hypothalamus and pituitary | SFEEU2023

First presentation of a prolactinoma with Pituitary Apoplexy

Salah Uddin Mohammad , Deshmukh Harshal , Kabir Afrin

Pituitary apoplexy is a rare but potentially life-threatening condition that occurs due to sudden hemorrhage or infarction in a pre-existing pituitary adenoma. Here, we present a case study of a 20-year-old girl who presented to the emergency department (ED) with severe headache due to pituitary apoplexy. The patient had a history of one-year intermittent headache, which was diagnosed as migraine/cluster headache in previous ED visits. She was on Mirena coil and had amenorrhea...

ea0065op4.3 | Bone and Calcium | SFEBES2019

Mendelian randomization and machine learning to assess the causal association of Type 2 Diabetes with osteoporosis and fragility fractures

Deshmukh Harshal , Papageorgiou Maria , Sathyapalan Thozhukat

Background: We used Mendelian randomization and machine learning (gradient boosting) to assess the causal association of Type 2 Diabetes with osteoporosis.Methods: We selected 155 SNPs associated with type 2 diabetes and glycaemic and insulin-related traits reported in previous studies (1,2) and studied the association with Heel bone mineral density (BMD)) (n= 4 72 996) and risk of fragility fractures (26 157 cases and 17 807 controls) in UKBiob...

ea0077p23 | Adrenal and Cardiovascular | SFEBES2021

Feminizing adrenal tumours (FAT): Rare tumours of the adrenal gland

Mishra Ashish , Deshmukh Harshal , Shah Najeeb , Sathyapalan Thozhukat , Mongolu Shiva

Functioning adrenal masses are often a diagnostic challenge and can present with unusual symptoms. We describe a case of a 37-year-old male with a background of ulcerative colitis, who presented with gynecomastia in the breast clinic. His serumbiochemistry showed persistently elevated Oestradiol and prolactin, with low testosterone and FSH. On physical examination, he had marked breast tenderness, bilateral gynecomastia and no signs of steroid excess. He reported a decline in ...

ea0077p109 | Reproductive Endocrinology | SFEBES2021

The relationship between polycystic ovarian syndrome and fractures: A Mendelian randomization study using the UK Biobank

Shah Najeeb , Deshmukh Harshal , Aye Mo , Sathyapalan Thozhukat

Background: Polycystic ovary syndrome (PCOS) is believed to be a primeval condition with the earliest hints of its existence found in ancient Egyptian literature. Despite its negative impact on fertility, it has emerged as the most common endocrine disorder in women of reproductive age, creating what is called the PCOS paradox. We hypothesized that this phenomenon can be explained by testosterone-mediated high bone mineral density (BMD) in women with PCOS, providing a survival...

ea0091p3 | Poster Presentations | SFEEU2023

A rare case of hypergonadotropic hypogonadism: A combination of two rare entities

Ssemmondo Emmanuel , Sathyapalan Thozhukat , Aye Mo , Mongolu Shiva , Deshmukh Harshal

Case History: This 19-year-old Caucasian female was seen in the Endocrine clinic with history of primary amenorrhea. She had a low sexual drive, no breast development but reported presence of axillary and pubic hair growth. Her main concern was whether she would be able to conceive. She had no comorbidities and took no regular medications. She never smoked and consumed no alcohol. On examination, she was 171 cm tall with a weight of 65.5 kg. She had normal external female geni...

ea0069p16 | Poster Presentations | SFENCC2020

Feminising adrenal tumours (FAT): the most common rare tumours of the adrenal gland?

Deshmukh Harshal , Shah Najeeb , Sathyapalan Thozhukat , Mongolu Shiva

Case history: Adrenal masses are often a diagnostic challenge and can present with unusual symptoms. We describe a case of a 37-year-old male with a background of ulcerative colitis, who presented with bilateral gynecomastia in the breast clinic of, worsening over last one year. He had marked breast tenderness, a decline in his libido but no erectile dysfunction. There was no history of recreational drug use.Investigations: His serum biochemistry showed ...

ea0077cc2 | (1) | SFEBES2021

Familial hypocalciuric hypercalcaemia (FHH) type 3: A rare cause of parathyroid (PTH) dependent hypercalcaemia with associated learning disabilities and behavioural problems

Shah Najeeb , Amjad Masroor , Benamer Sufyan , Deshmukh Harshal , Sathyapalan Thozhukat , Mohammed Kamrudeen

Case: A 25-year-old male with a history of Asperger’s syndrome, not on regular medication, with no family history of endocrinopathy; was referred with mild hypercalcaemia found during routine investigations for fatigue, weight loss, diarrhoea and vomiting. A normal PTH suggested PTH-dependent hypercalcaemia. There was no history of fractures or nephrolithiasis. DEXA scan showed normal bone mineral density (femur, spine and forearm). The gastrointestinal symptoms and fatig...

ea0077p107 | Reproductive Endocrinology | SFEBES2021

A randomised controlled trial on the effect of very-low-calorie diet (VLCD) vs. an energy deficit diet, in women with the polycystic ovary syndrome (PCOS) – remission PCOS

Deshmukh Harshal , Papageorgiou Maria , Wells Liz , Akbar Shahzad , Strudwick Tom , Reid Marie , Sathyapalan Thozhukat

PCOS is the most common endocrine disorder affecting the women of reproductive age group and weight loss is the mainstay of management of PCOS. We performed an open-label randomised controlled trial to compare the effects of a conventional energy deficit approach (-600 kcal/day of the total energy requirements) vs. a very low-calorie diet (VLCD: 800 kcal/day) on free androgen index (FAI), body weight, and metabolic markers in women with PCOS. Forty-one eligible patients were r...