hrp0098p3-41 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

New treatment perspectives in hypophosphatasia

Vasiliu Ioana , Frasinariu Otilia-Elena , Bizim Delia , Chelaru Nicoleta , Armasu Ioana , Trandafir Laura-Mihaela

Introduction: Hypophosphatasia (HPP) is a rare, potentially fatal, either autosomal dominant or recessive genetic disorder caused by the loss of function of the tissue-non-specific isoenzyme of the serum alkaline phosphatase, due to pathogenic variants of the ALPL gene. The onset of the deleterious effects on bone metabolism is highly variable, ranging from mild cases with dental abnormalities to severe forms that can be life-threatening in infancy or early ch...

hrp0094p2-405 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Serum high mobility group box 1 (HMGB1) levels are independently associated with glucose clamp-derived measures of insulin resistance in PCOS

Catellani Cecilia , Migazzi Matteo , Sartori Chiara , Dauriz Marco , Righi Beatrice , Cirillo Francesca , Villani Michela , Tosi Flavia , Moghetti Paolo , Street Maria Elisabeth

Polycystic Ovary Syndrome (PCOS) is one of the most common endocrine disorders among women of reproductive age, and is characterised by chronic inflammation and in most cases by insulin resistance besides ovulatory dysfunction and hyperandrogenism. HMGB1 is a small protein with cytokine activity that can activate nuclear factor kappa light chain enhancer of activated B cells (Nf-kB), and signals through the Receptor for advanced glycation end products (RAGEs) and through the T...

hrp0095fc9.4 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Delayed puberty: unraveling the different trajectories and contributions of AI

Antoniou Maria-Christina , Xu Cheng , Zouaghi Yassine , Papadakis Georgios , Stoppa-Vaucher Sophie , Kolesinska Zofia , Bouthors Thérèse , Lore Ruiz Arana Inge , Elowe-Gruau Eglantine , Phan-Hug Franziska , Pasquier Jerôme , Adamo Michela , Deladoey Johnny , Vuissoz Jean-Marc , Busiah Kanetee , Hauschild Michael , Santoni Federico , Acierno James , Pitteloud Nelly

Introduction: Differentiation between constitutional delay of growth and puberty (CDGP) and congenital hypogonadotropic hypogonadism (CHH) during early adolescence is challenging, as patients exhibit a similar clinical picture and there are no definite clinical or biochemical markers that distinguish these 2 pathologies. A delay in diagnosis, especially for CHH, may have short and long-term health consequences. The aims of this study were: 1) To evaluate the u...

hrp0097p2-43 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Persistent Müllerian duct syndrome and the identification of a yet unreported homozygous mutation in AMHR2 gene

Cima Luminita-Nicoleta , Oprescu Raluca , Zubaci Ana , Tarna Mihaela , Iliescu Marina , Dumitrache Sabina , Grosu Iustina , Draghici Isabela , Chirita-Emandi Adela , Puiu Maria , Gabriela Barbu Carmen , Viorica Popescu Mihaela , Fica Simona

Introduction: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. PMDS is caused by mutations in the genes coding anti-Müllerian hormone (AMH, PMDS type 1) or the AMH receptor (AMHR2 gene, PMDS type 2) and it usually presents as undescended testes (cryptorchidism) or inguinal hernia...

hrp0084p2-315 | DSD | ESPE2015

Chimerism in a Teenager with Ovotesticular Disorder of Sexual Development

Buzduga Mihaela , Meyrat Blaise , Typaldou Sofia Anna , Estremadoyro Vanina , Maestre Leonor Alamo , Dwyer Andrew , Pitteloud Nelly , Phan-Hug Franziska

Background: Chimerism is the phenomenon of two or more genetically distinct cell lines (originating from different zygotes) in the same individual. In situations when the sex of the fertilised eggs is disparate, it can lead to intersex phenotypes.Objective and hypotheses: We report a case of ovotesticular disorder of sexual development with chimerism resulting from a twin pregnancy (not involving assisted reproductive technologies).<p class="abstext"...

hrp0084p3-604 | Adrenals | ESPE2015

Severe High Blood Pressure with Renal Failure in a Neglected Case of 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia

Belceanu Alina Daniela , Munteanu Mihaela , Florea Mariana , Ungureanu Maria-Christina , Zmau George , Puiu Mirela , Armasu Ioana , Mogos Voichita , Vulpoi Carmen

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterised by impaired cortisol synthesis. An enzymatic defect in 11-beta-hydroxylase is the second most common variant of CAH and accounts for approximately 5–8% of cases. Patients present with features of androgen excess and approximately two thirds of patients also have high blood pressure (HBP), which is initially responsive to glucocorticoid replacement, but may become a c...

hrp0084p3-1038 | Growth | ESPE2015

Short Stature in a Rare 15q Duplication – is hGH Treatment Beneficial?

Manolachie Adina , Rusu Cristina , Braha Elena , Crumpei Iulia , Belceanu Alina , Puiu Mirela , Anton Mihaela , Leustean Letitia , Vulpoi Carmen

Introduction: Distal chromosome 15 duplication is a very rare genetic disease, first described in 1974 by Fujimoto et al. The symptoms and physical findings include prenatal and/or postnatal growth retardation, mental retardation, poor speaking abilities, asymmetrical dysmorphic facial features, malformations of the fingers and/or toes and sometimes heart conditions.Case report: We report a case of a 2 years 5 months old girl, born with SGA (uterine grow...

hrp0095p2-257 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A Novel Discovered Role for CFTR in Azoospermia and Wolffian Duct Maldevelopment Caused by Cryptorchidism

Hadziselimovic Faruk , Verkauskas Gilvydas , Stadler Michael

Aim of the Study: Cryptorchidism occurs more frequently in CF-children, and malformed epididymis was found more in cryptorchid boys with abrogated mini-puberty. Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) is transporter protein that acts as a chloride channel. Specifically, CFTR is associated with spermatogenesis and fertility.Patients and Methods: Testicular biopsies for histological and RNA analysis from...

hrp0092p1-177 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Severe Hypocalcaemia in Propionic Acidaemia caused by Parathyroid Hormone Resistance and treated with Alfacalcidol

Sandy Jessica , Champion Michael , Cheung Moira

Introduction: Propionic Acidaemia (PA), an organic acidaemia, is characterized by episodes of decompensation with severe metabolic acidosis and hyperammonaemia. PA is associated with low bone mineral density and osteoporosis. Hypocalcaemia is known to occur in 35-65% of decompensations, however the underlying pathophysiology remains unclear. PTH resistance has previously only been described in one case of hypocalcaemia in PA and we report the first use of ...

hrp0089fc11.5 | Bone, Growth Plate &amp; Mineral Metabolism 2 | ESPE2018

A Recurrent 6-bp Intronic Deletion in NESP55 with Reduced Penetrance in Pseudohypoparathyroidism Type 1b

Li Dong , Hakonarson Hakon , Levine Michael

Background: Pseudohypoparathyroidism type 1b (PHP1b) is caused by epigenetic errors on the maternal GNAS allele at differentially methylated regions (DMRs) associated with exons A/B, XL, and NESP that lead to reduced production of Gαs transcripts most notably in the renal proximal tubule and thyroid follicular cells. Most PHP1b cases appear sporadically, few of which can be explained by paternal uniparental disomy involving chromosome 20q, leading to global methy...