hrp0092p1-113 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Delayed Puberty in A 16-Year-Old Male Associated with Gamma Aminobutyric Acid Capsule Supplements

Blackburn James , Senniappan Senthil , Ahmed Syed Harris

Background: Delayed puberty is defined as the absence of physical signs of puberty 2 to 2.5 standard deviations greater than the mean and affects 2% of the adolescent population. We present a male patient aged 16, presenting with delayed puberty. On direct questioning the patient revealed he had been taking regular Gamma-Aminobutyric Acid (GABA). These supplements appeared to suppress the hypothalamic-pituitary-gonadal (HPG) axis.<st...

hrp0092p2-236 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Isolated Premature Menarche into Two Siblings with Neurofibromatosis Type 1

Blackburn James , Didi Mohammed , Senniappan Senthil

Background: Neurofibromatosis type 1(NF1) is an autosomal dominant genetic disorder caused by NF1 mutation. The condition is typified by the development of benign and malignant tumours in both the central nervous system and peripheral tissues. We present two siblings diagnosed with NF1 who presented at an early age with isolated menarche.Case Presentation: Sibling 1 – A 7-year-old patient w...

hrp0089p2-p385 | Thyroid P2 | ESPE2018

Thyroid Hormone Receptor β (THRB) Mutation: Two New Cases of Heterozygous Mutation with Significant Family History

Blackburn James , Senniappan Senthil , Giri Dinesh

Introduction: Resistance to thyroid hormone (RTH) is a relatively uncommon disorder that is usually associated with mutations in thyroid hormone receptor (THR) beta, although rarely THR alpha mutations have been described. RTH beta (RTHB) is often inherited in an autosomal dominant pattern. We describe two cases of RTHB to highlight the significant variations in both clinical presentation and family history.Case 1: A 2 year old patient ...

hrp0094fc8.3 | Neuroendocrinology | ESPE2021

A novel clinical risk score that can accurately predict recurrence of craniopharyngioma - a multicentre cohort study

Kyprianou Nikolina , Blackburn James , Tan Rachael , Bulfamante Gaetano , Massa Valentina , Roncaroli Federico , Ribalta Teresa , Evanson Jane , Korbonits Marta , Dattani Mehul , Rai Ashutosh , Gupta Prakamya , Dutta Pinaki , Bhansali Anil , Salunke Pravin , Pani Danda , Skoric Tanja , Kastelan Darko , Gnanalingham Kanna , Mitchell Rod , Bulfamante Antonio , Argente Jesus , Goycoolea Nicolas , Torales Jorge , Biagetti Betina , Audi Laura , Resmini Eugenia , Webb Susan , Kapoor Ritika , Chandler Christopher , Zebian Bassel , Thomas Nick , Sampron Nicolas , Paraskevopoulos Dimitrios , Preda Cristina , Ahmad Amar , Pease Gevers Evelien F , Gaston-Massuet Carles ,

Background: Recurrence of craniopharyngiomas influences mortality. Apart from the extent of surgical resection, few clinical parameters have been consistently shown to be associated with recurrence. Radical resection is difficult due to infiltration of surrounding tissue and unacceptable morbidity. Predictors of recurrence are therefore needed.Aim: To establish a multinational cohort of patients with craniopharyngioma an...