hrp0094p2-264 | Growth hormone and IGFs | ESPE2021

Growth hormone (GH) treatment of children with idiopathic short children (ISS) with normal insulin-like growth factor-1 (IGF-1) versus those with low IGF-I at diagnosis.

Elsiddig Sohair , Soliman Ashraf , Alaaraj Nada , Khalil Ahmed , Ahmed Hannah ,

ISS is a condition in which the height is more than 2 SD below the corresponding mean height for age, sex and population, in whom no identifiable disorder is present. Some ISS patients may have varying degrees of IGF-1 deficiency. Recombinant GH treatment has been used by some authors with variable results. Theoretically, low IGF-I level at presentation may affect their response to GH therapy. The question is: do children with ISS and low IGF-I respond differently to GH therap...

hrp0094p2-265 | Growth hormone and IGFs | ESPE2021

Growth response to growth hormone therapy in growth hormone deficient (GHD) children in relation to the distance between their height SDS (HtSDS) and their mid-parental height.

Elsiddig Sohair , Soliman Ashraf , Alaaraj Nada , Khalil Ahmed , Ahmed Hannah ,

Introduction: Mid-parental height (MPH) is a useful tool in the prediction of final adult height in normal children as well as those on growth hormone (GH) therapy. Aim of the study to evaluate the growth response to GH therapy in GHD children in relation to their MPH.Methods: This retrospective study included 22 short prepubertal children with GHD (peak GH<10 μg/l). They were followed in the Endocrine clinic be...

hrp0094p2-266 | Growth hormone and IGFs | ESPE2021

Linear growth and response to GH therapy in children with short stature with normal Growth hormone secretion: Comparison between children with delayed versus no delay in the bone age at diagnosis.

Elsiddig Sohair , Soliman Ashraf , Alaaraj Nada , khalil Ahmed , Ahmed Hannah ,

Bone age (BA) continues to be a valuable tool in assessing children’s growth potential. Children with normal variant short stature can be subdivided into idiopathic short stature (ISS) (with no delay in BA versus chronological age (CA) and constitutional delay (CDG) (with delayed BA versus CA. The response of these two groups to GH therapy remains controversial.Aim, patients, and methods: We studied linear growth, weight gain, skeletal maturation, a...

hrp0094p2-267 | Growth hormone and IGFs | ESPE2021

Linear growth and response to GH therapy in children with GHD with normal IGF-I versus those with normal GH secretion associated with low IGFI at presentation.

Elsiddig Sohair , Soliman Ashraf , Khalil Ahmed , Alaaraj Nada , Ahmed Hannah ,

Introduction: Children with idiopathic short stature have linear growth impairment despite normal or even high levels of GH. In some of these children IGFI level is low (NGH + Low IGFI (IGFSDS<-1.5). It was observed that some children with GHD (Peak GH < 7 ng/dl after provocation) have normal IGFI levels (GHD +Normal IGFI). The linear growth of these two groups at presentation and their response to GH therapy was not studied well.<p class="abstext"...

hrp0094p2-268 | Growth hormone and IGFs | ESPE2021

Growth response to growth hormone therapy in short children in relation to their distance from mid-parental heights (MPHt).

Elsiddig Sohair , Soliman Ashraf , Alaaraj Nada , Khalil Ahmed , Ahmed Hannah ,

In normal children, mid parental height (MPH) is a useful tool in assessing children’s growth and in the prediction of their final adult height. However, this may not be true for short children, especially those with height SD (HtSDS) > - 1SDS compared to their mid-parental height SDS (MPHtSDS). The difference may indicate underlying pathology.Aim: To assess growth response (change in HtSDS) to GH therapy in short prepubertal ch...

hrp0095rfc6.6 | Sex Development and Gonads | ESPE2022

Differently Normal: Making sense of Adolescent Perspectives of Early Childhood Experiences associated with Congenital Adrenal Hyperplasia (CAH)

Siese Thomas , Alderson Julie , Hickingbotham Hannah , Hawton Katherine , Skae Mars , Crowne Elizabeth

Background: There is limited reporting of the impact of genital difference on early childhood experience, although the young person’s viewpoint should be at the core of patient centred clinical decision making. The experience of girls living with Congenital Adrenal Hyperplasia (CAH) may differ according to context, being influenced by interactions within the family, with specialist teams as well as prevailing social values. Clearly there is a need to inv...

hrp0095t14 | Section | ESPE2022

CCDC149: a Novel Gene Associated with Multiple Pituitary Hormone Deficiency

Rath Shoshana , Elias-Assad Ghadir , Abozaid Said , Nasser Samra Nadra , Mandel Hannah

Background: Idiopathic hypogonadotropic hypogonadism (HH) is highly genetically heterogeneous. To date, about 50 causative genes have been identified, estimated to account for up to 50% of hereditary cases. With next generation sequencing (NGS) technology now in wide clinical use, it is increasingly possible to determine the underlying genetic etiology of isolated and combined pituitary hormone deficiencies.Objective: We...

hrp0095p1-456 | Diabetes and Insulin | ESPE2022

Outmoded by Mody? A Case Report of HNF1A-Mody in Paediatric Stroke

Siese Thomas , Hickingbotham Hannah , Eggers Anne , Alins-Sahun Yolanda , Bowen Philippa , Hamilton-Shield Julian

Background: The association between HNF1A-MODY and vascular complications including stroke has previously been identified in adults but to date there have been no reported paediatric cases published.Description: We present the case of an Eritrean 13-year-old girl, who was admitted with an acute ischaemic stroke, on a background of Diabetes Mellitus (Presumed Type 1) diagnosed the previous year. Aside from being on multip...

hrp0095p1-79 | Fat, Metabolism and Obesity | ESPE2022

Severe early-onset obesity and diabetic ketoacidosis due to a novel homozygous c.169C>T p.Arg57* mutation in CEP19 gene

Cayir Atilla , Turkyilmaz Ayberk , Rabenstein Hannah , Guven Fadime , Sumeyra Karagoz Yuksel , Wabitsch Martin , Demirbilek Huseyin

Background and Objective: Homozygous mutations in the “Centrosomal Protein-19 (CEP19)” gene are extremely rare causes of early-onset severe monogenic obesity. We, herein, report three siblings with CEP19 mutation.Case Presentation and Method: The index case was a 12-years-old female who presented with severe obesity (BMI:62.7kg/m2), metabolic syndrome and diabetic ketoacidosis. Her non-identical twin female s...

hrp0095p1-135 | Multisystem Endocrine Disorders | ESPE2022

Hypoaldosteronism without hypocortisolism - an unusual presentation of APECED syndrome

Gounari Eleni , Buchanan Charles , Ghataore Lea , Hannah Romanie , Bushan Arya Ved

Background: Automimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an extremely rare autoimmune condition caused by AIRE (autoimmune regulator) gene mutations and characterised by a classic triad of 1) chronic mucocutaneous candidiasis, 2) hypoparathyroidism and 3) adrenal insufficiency. APECED can involve any endocrine or non-endocrine organ. Consequently, clinicians need to be mindful of the great variability in presentation. Although ad...