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 ...

hrp0097p2-18 | Growth and Syndromes | ESPE2023

Central precocious puberty in KBG syndrome due to a rare ANKRD11 variant

Blackburn James , Calder Alistair , Gaston-Massuet Carles , Gevers Evelien

Introduction: Establishing a clear diagnosis in patients with short stature can be challenging. Careful examination and investigation of patients with short stature may identify additional features that help to make a diagnosis or direct genetic testing. We describe a patient with severe short stature with additional features on examination suggestive of KBG syndrome. A subsequent skeletal survey revealed radiological features suggestive of the diagnosis. In a...

hrp0097rfc12.2 | Thyroid | ESPE2023

A novel frameshift mutation in Immunoglobulin Superfamily, Member 1 (IGSF1) causing central hypothyroidism, delayed puberty and GH deficiency

Blackburn James , Ahmed Shahida , van Meijgaarden Birgit , Gaston-Massuet Carles , Gevers Evelien

Background: Central hypothyroidism is rare in children. It is often part of multiple pituitary hormone deficiency but can occur in isolation. Isolated central hypothyroidism may be due to mutations in TSHB, TRHR or IGSF1, involved in TRH signalling. We present an adolescent with a novel truncating variant of IGSF1, resulting in delayed puberty, central hypothyroidism and macroorchidism.Case presentation: A 15-year-old ma...

hrp0098fc3.2 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2024

Disruption of the Wnt-antagonist APC in the pituitary stem cells is a driver of adamantinomatous craniopharyngioma

Blackburn James , Gomez-Corral Laura , Nicholson James , Tan Racheal , Hall Charlotte , Gualtieri Angelica , Gaston-Massuet Carles

Introduction: Adamantinomatous craniopharyngioma (aPCs) are complex intracranial neoplasms that arise in the sellar or parasellar region affecting the endocrine system, leading to severe comorbidities. Activating mutations resulting in degradation resistant b-Catenin have been shown to be the main driver for a large proportion of these neoplasms. However, the underlying genetic driver for a number of these tumours remains unknown. Here, using murine transgenic...

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...