hrp0084p3-720 | Diabetes | ESPE2015

Cardiovascular Autonomic Neuropathy and Early Atherosclerosis in Adolescent Type 1 Diabetic Patient

Battah Ahmed , Dayem Soha Abd El , Bohy Abo El Magd El , Allah Nagwa Abd

Objective: To evaluate cardiovascular autonomic neuropathy (CAN) in type 1 Diabetics and to detect its relation to coronary artery calcification.Patients and methods: It is a cross sectional study included 62 diabetics and 30 controls. Clinical, laboratory assessment and 24 h holter were done for all patients and controls and coronary artery calcium (CAC) scoring by multisclice CT was done for all patients only. t-test, Mann–Whitney U-test ...

hrp0094s12.1 | Epigenetics and Genetics in Endocrine Disorders | ESPE2021

Epigenetics, imprinting and growth

Temple I Karen ,

Human imprinting disorders are congenital disorders of growth, development and metabolism, associated with disturbance of gene dosage at imprinted loci across the genome. Causes of disease include point mutations, structural variants, uniparental disomy and ‘epimutations’ with a parent of origin specific effect. Further complexity underlies the causes of the epigenomic errors that may be the result of genetic and environmental factors at different times during the de...

hrp0094p2-50 | Adrenals and HPA Axis | ESPE2021

First case in Lebanon of homozygous mutation in CYP 11B2 leading to isolated aldosterone deficiency.

Azar Ahlam , El-Rahi Hiba , Makhoul Kevin , Makhoul Peter , Megarbane Andre ,

Isolated hypoaldosteronism is a rare cause of salt wasting in infancy and may be life-threatening, especially in the newborn. Isolated aldosterone deficiency results from loss of activity of aldosterone synthase encoded by CYP 11B2 gene. We reported the case of a newborn, who presented at the age of 4 weeks with severe dehydration, vomiting and hypotonia. Blood investigations showed severe hyponatremia, hyperkaliemia and metabolic acidosis. The familial history revealed a firs...

hrp0098p2-253 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

A Rarely Detected Variant in 46,XX Disorders of Sex Development: Recurrent p.Arg92Trp Variant in NR5A1

Ali Oktay Mehmet , Akın Agah , Döğer Esra , Kayhan Gülsüm , Eşme Kocaman Gizem , Orhun Çamurdan Mahmut , Bideci Aysun

Introduction: 46,XX testis/ovotesticular (OT) disorders of sex development (DSD) are rare conditions where gonadal differentiation in 46,XX individuals leads towards testicular development. SRY-negative 46,XX OT-DSD is even rarer compared to other DSDs.Case Presentation: A male patient presented at the age of 3 due to micropenis. Physical examination revealed penile hypospadias and bifid scrotum; phallus length was 2.2 c...

hrp0095hdi2.2 | How Do I… Session 2 | ESPE2022

How do I replace oestrogens in Turner syndrome?

Sas Theo

In Turner Syndrome (TS) the ovaries usually start to involute within 4 or 5 months of gestation. Consequently, the majority of patients have diminished ovarian estrogen production leading to the (Partial) absence of puberty. These girls need estrogen therapy to induce pubertal maturation. For many parents of girls with TS, talking about ovaries, puberty and, particularly, infertility is a stressful thing. However, timely age-appropriate disclosure about these subjects, startin...

hrp0095fc5.4 | Adrenals and HPA Axis | ESPE2022

Reference Growth Charts in Children with Congenital Adrenal Hyperplasia

Sarafoglou Kyriakie , Miller Bradley , Munoz Yesica , Jaber Mu'taz , Yaw Addo O.

Introduction: Adult height in individuals with Congenital Adrenal Hyperplasia (CAH) is reduced compared to the general population as their growth during childhood can be negatively impacted by both the disease and its treatment. Excess production of androgens through aromatization to estrogens can accelerate height velocity and skeletal maturity, and lead to short stature if not adequately suppressed. Over suppression of adrenal steroids through excess glucoco...

hrp0095p1-142 | Multisystem Endocrine Disorders | ESPE2022

Two causes of short stature and delayed puberty in one patient: craniopharyngioma and celiac disease. A case report.

Simina MihutaMonica , Stoian Dana , Cepeha Cristina , Paul Corina

Introduction: Craniopharyngioma, a benign tumor, develops in the sellar/parasellar region. Diagnosis is usually late. Symptoms include severe headaches and vomiting, visual impairment, visual and olfactory hallucinations and at least one hormonal deficiency. Celiac disease is caused by an immune reaction triggered by gluten in the small intestine. Over time, due to inflammation, it causes malabsorbtion which can affect growth in children.<p class="abstext"...

hrp0095p1-564 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Adenohypophyseal Hyperfuction in Childeren and Adolescents with McCune-Albright Syndrome

Xie Liu-lu , Li Yan-hong , Ma Hua-mei , Du Min-lian

Background: McCune-Albright Syndrome(MAS)is a rare disease caused by somatic gain-of-function mutations of the GNAS gene, presenting with fibrous dysplasia(FD), cafe-au-lait spots and gonadotropin-independent precocious puberty(PP). Adenohypophyseal hyperfunction syndromes is reported uncommon but potentially severe complication of MAS.Method: A prospective study was performed to evaluate the prevalence of the pit...

hrp0095p2-168 | Growth and Syndromes | ESPE2022

Two siblings whose differential diagnosis with rickets; Schmid Metaphyseal Chondrodysplasia

Sarikaya Emre , Gok Ebru , Kara Leyla , Berber Mg ur , Gul Siraz Ulku , Hatipoglu Nihal

Entry: Rickets is a generalized metabolic bone disease manifested by the abnormal increase in osteoid tissue, defective mineralization and deformation of the epiphyseal plate, which occurs as a result of vitamin D and mineral deficiency before epiphysial fusion occurs in adolescence. Although rickets is mostly seen due to vitamin D deficiency, it can rarely be seen in vitamin D metabolism disorders and diseases that cause phosphorus loss. Clinical findings suc...

hrp0095p2-229 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

12 years follow-up of GH/PRL secreting pituitary macroadenoma in a child with McCune Albright syndrome

Wei Mei-hua , Li Yan-hong , Xie Liu-lu , Ma Hua-mei , Chen Qiu-li , Chen Hong-shan , Du Min-lian

Background: McCune-Albright Syndrome(MAS)includes fibrous dysplasia(FD), cafe-au-lait spots and gonadotropin-independent precocious puberty(PP). Adenohypophyseal hyperfunction syndromes is uncommon but may be potentially severe complication.Objective: To report a girl who has been confirmed McCune-Albright syndrome and has been found pituitary adenoma during follow-up.Methods:</stron...