Searchable abstracts of presentations at key conferences in endocrinology

ea0066in1.2 | (1) | BSPED2019

Dattani Mehul

Mehul Dattani is Professor of Paediatric Endocrinology based at the University College London (UCL) Great Ormond Street Institute of Child Health, and Specialty Lead in Endocrinology at Great Ormond Street Hospital for Children (GOSH). He has an active clinical practice in paediatric and adolescent Endocrinology at GOSH and University College London Hospitals (UCLH). He completed a 3-year term as Chair of the British Society for Paediatric Endocrinology and Diabetes, followed ...

ea0039symp1.2 | Industry sponsored Satellite Symposium | BSPED2015

Novel insights into pituitary dysfunction - Congenital hypopituitarism: new genes, new phenotypes

Dattani Mehul

Congenital hypopituitarism (CH) is a rare but life-threatening condition that is associated wth significant morbidity and mortality. It occurs in 1 in 4000 to 1 in 10000 live births, and may present variably. In the newborn period it is associated with conjugated hyperbilirubinaemia, micropenis with undescended testes in affected males, hypoglycaemia and possibly features of hypothyroidism including lethargy and feeding difficulties. Later on, it may present with early growth ...

ea0030s1 | CME TRAINING DAY | BSPED2012

Physiology and developmental disorders of the pituitary

Dattani Mehul

The pituitary gland is a central regulator of growth, homeostasis and reproduction. It is in turn regulated by the hypothalamus, which generates a number of releasing factors (GHRH, TRH, GnRH, CRH) and the inhibitory hormone somatostatin. The pituitary gland consists of the anterior and posterior lobes, both of which have separate developmental origins. The anterior lobe derives from the oral ectoderm, whilst the posterior lobe derives from the neuroectoderm. The anterior pitu...

ea0023s4 | (1) | BSPED2009

Investigating peripubertal growth problems

Dattani Mehul

The investigation of growth failure can be fraught with difficulties at all ages, but never more so than in the peri-pubertal period. The differential diagnosis at this period of life includes constitutional delay of growth and puberty (CDGP), hypogonadotrophic hypogonadism (HH), GH insufficiency (GHD/GHI) and a physiological peri-pubertal reduction in growth velocity in addition to other organic causes of growth failure. Careful auxology and pubertal staging with assessment o...

ea0016s23.1 | Towards a better understanding of hypothalamic–pituitary disorders | ECE2008

Pituitary development and congenital hypopituitarism (CH)

Dattani Mehul

Normal hypothalamo-pituitary development is critically dependent upon a complex genetic cascade that dictates organ commitment, cell differentiation, and cell proliferation within the anterior pituitary. Mutations in a number of transcription factors have been implicated in the aetiology of congenital hypopituitarism (CH) in mice and humans; resulting phenotypes and their inheritance may be highly variable. Mutations in genes implicated in early pituitary development may be as...

ea0036P79 | (1) | BSPED2014

UK GH stimulation test survey

Chesover Alexander , Dattani Mehul

Background: Previous studies show poor consensus on the use of GH stimulation tests. Sex steroid priming and re-testing in the transition period are areas not previously surveyed. In light of more recent guidance and expert opinion, this survey aims to analyse the diagnostic processes employed in the diagnosis of GH deficiency (GHD) in the UK.Methods: Data were collected from tertiary paediatric endocrinologists, paediatricians with a specialist interest...

ea0033p71 | (1) | BSPED2013

GH neurosecretory dysfunction may be associated with structural abnormalities of the hypothalamic–pituitary axis

Hughes Claire , Dattani Mehul

Introduction: GH neurosecretory dysfunction (NSD) refers to children with abnormal auxology, normal GH responses to provocative testing, but with impaired spontaneous GH secretion over 24 h, leading to low IGF1 concentrations. It is thought to be due to abnormal hypothalamic function with aberrant GHRH and somatostatin secretion leading to impaired GH secretion and subsequently suboptimal growth.Methods: We reviewed children admitted for spontaneous GH s...

ea0033p81 | (1) | BSPED2013

The role of GH in early postnatal life in mice

Gevers Evelien , Dattani Mehul

GH concentrations are high at birth but it is unclear whether and where GH signaling takes place at this time. We assessed the response to GH in young normal and GH-deficient (GHD) pups.Transgenic M2-GRF mice were significantly GHD from birth. Weight and plasma IGF1 concentration were normal, but reduced at 6–8 day of age (P<0.01). 3 and 10-day-old GHD and normal (WT) mice were treated with bovine GH (bGH, 10 μg/g bw s.c. bd) or ve...

ea0051p026 | Miscellaneous/other | BSPED2017

Albright’s Hereditary Osteodystrophy associated with resistance to insulin and thyroid hormone in three male siblings

MacGloin Helen , Rangasami Jayanti , Dattani Mehul

Introduction: Pseudohypoparathyroidism Type 1a (PHP1a) is a rare disorder caused by mutation in GNAS, which encodes the alpha-subunit of the trimeric stimulatory G protein, Gsα, and links numerous G protein-coupled receptors (GPCR) to adenylyl cyclase. GPCRs are crucial for intracellular endocrine signalling, and since GNAS is expressed predominantly from the maternal allele in some tissues, maternally inherited loss of function GNAS mutations are associated with...

ea0085oc3.2 | Oral Communications 3 | BSPED2022

Two cases on the carney complex spectrum secondary to PRKACA/PRKAR1A variants presenting with cushing syndrome in childhood

Shaunak Meera , McGlacken-Byrne Sinead , Dattani Mehul

Introduction: We present two cases of Carney and Carney-like Complex due to genetic aberrations with the cAMP/PKA pathway presenting with ACTH-independent Cushing Syndrome (CS) and extra-adrenal features.Case report: Case 1 was referred aged 4 years with a 15 month history of cyclical CS (periodic weight gain, facial roundness, hirsutism). Neuroimaging did not identify a pituitary abnormality. Biochemistry confirmed ACTH-independent hypercortisolism, wit...