hrp0082p1-d3-95 | Sex Development | ESPE2014

Ovarian Development and Hormonal Feedback Mechanism in a 46XX Patient with cyp19a1 Deficiency Under Low Dose Estrogen Replacement

Burckhardt Marie-Anne , Obmann Verena , Janner Marco , Mullis Primus E

Background: Ovarian and uterine development in relation to hormonal feedback mechanisms (E2, LH, FSH, and inhibin) has rarely been studied. Therefore, the age specific and longitudinally adequate replacement dose of estradiol to achieve normal maturation in terms of ovarian and uterine development during infancy, childhood and adolescence remains not well known. However, aromatase deficiency offers an excellent model to study the relevant estradiol dose needed to ac...

hrp0082p2-d1-518 | Pituitary | ESPE2014

Goliath, a Variant of DAVID Syndrome?

Hasselmann Caroline , Samuels Mark E , Van Vliet Guy

Background: DAVID syndrome (deficit in anterior pituitary function and variable immune deficiency) (J Clin Endocrinol Metab 97 E121, 2012) can be caused by NFKB2 mutations (Am J Hum Genet 93 13, 2013). All patients have an orthotopic posterior pituitary (PP) and most only ACTH deficiency.Objective and Hypothesis: To describe a girl with common variable immunodeficiency (CVID), ectopic PP (EPP) ...

hrp0084p2-448 | Growth | ESPE2015

Determination of the Pathogenicity of SHOX P2 Promoter Variants, Identified in Patients with Léri-Weill Dyschondrosteosis or Idiopathic Short Stature

Belinchon Alberta , Benito-Sanz Sara , Heath Karen E

Background: Expression of SHOX, a transcription factor implicated in skeletal development, is regulated by the interaction of two promoters, weak, P1 (exon 1) and strong, P2 (exon 2), with at least, seven enhancers. SHOX haploinsufficiency, due to mutations in SHOX or its enhancers, explains ~70% of Leri-Weill dyschondrosteosis (LWD) and ~2.5% idiopathic short stature (ISS) cases whilst the underlying molecular mechanism in the remaining is unknown.<p...

hrp0084p2-472 | Growth | ESPE2015

Characterisation of Partial SHOX Deletions/Duplications Reveals Intron 3 to be a Hotspot Region

Benito-Sanz Sara , Belinchon Alberta , Heath Karen E

Background: SHOX, located on the pseudoautosomal region 1 (PAR1), encodes a transcriptional factor implicated in human skeletal growth. Alterations in SHOX or its regulatory elements are observed in ~70% of patients with Leri–Weill dyschondrosteosis (LWD), in ~90% with Langer mesomelic dysplasia (LMD) and ~2.5% of patients with idiopathic short stature (ISS). SHOX deletions/duplications are a frequent alteration, with the majority encompassing the entire gene.<p class...

hrp0094p2-234 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) | ESPE2021

Continuous Glucose Monitoring (CGM) Reveals Undertreated Hypoglycemia in Patients with Congenital Hyperinsulinism

Hood Davelyn E. , Roberts Brian K. , Neale Ann , Raskin Julie ,

Introduction: Congenital Hyperinsulinism (CHI) is the most frequent cause of severe, persistent hypoglycemia in children. Despite current treatments, patients/caregivers report continued hypoglycemia according to the HI Global Registry 2020 Annual Report. Published literature characterizing hypoglycemia in CHI patients on standard of care (SOC) therapies is lacking.Objective: To quantify the extent of hypoglycemia in CHI...

hrp0095p1-333 | Multisystem Endocrine Disorders | ESPE2022

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome

P. Suntharalingham Jenifer , Ishida Miho , E. Stalman Susanne , Solanky Nita , E. Moore Gudrun , C. Achermann John , Buonocore Federica

Background: Heterozygous de novo variants in SAMD9 cause the complex multisystem growth disorder, MIRAGE syndrome. Core features are myelodysplasia, infection, restricted growth, adrenal hypoplasia, genital/gonadal phenotypes, and enteropathy. However, the range of additional associations is expanding and includes disrupted placental development, poor post-natal growth, and other endocrine features. Milder phenotypes are also described, such ...

hrp0082fc6.3 | Gonads &amp; DSD | ESPE2014

LRH1 Rescues SF1 Deficiency for Steroidogenesis in vitro but Cannot Explain the Broad Phenotype of SF1 Deficiency in men

Camats Nuria , Fernandez-Cancio Monica , Audi Laura , Andaluz Pilar , Mullis Primus E , Carrascosa Antonio , Fluck Christa E

Introduction: Steroidogenic factor1 (SF1/NR5A1) regulates adrenal and sex development and function. SF1 mutations manifest with a broad phenotype; generally in 46,XY individuals with disorders of sex development (DSD) and in women with ovarian insufficiency. So far, no genotype–phenotype correlation has been found. We hypothesized that the broad phenotype of SF1 mutations may be due to a second hit in a gene with similar function. Liver receptor homolog-1 (LRH1/<...

hrp0092fc5.4 | Thyroid | ESPE2019

Thyroid Dysgenesis: Exome-Wide Analysis Identifies Rare Variants in Genes Involved in Thyroid Development and Cancer

Larrivée-Vanier Stéphanie , Jean-Louis Martineau , Magne Fabien , Bui Helen , Samuels Mark E. , Polak Michel , Van Vliet Guy , Deladoëy Johnny

Context: Congenital hypothyroidism from thyroid dysgenesis (CHTD) is mainly a sporadic and non-syndromic condition occurring in 1:4,000 live births. In contrast to rare cases of syndromic monogenic CHTD, non-syndromic (NS) CHTD shows low familial recurrence risk (~2%) and low concordance rate between MZ twins, suggesting a two-hit scenario combining post-zygotic events with either a de novo monogenic mutation or incomplete penetrance of polyg...

hrp0094fc5.4 | Sex Development and Gender Incongruence | ESPE2021

Reproductive hormone levels in Minipuberty as a predictor of Testicular Endocrine Function and Penile Length in Healthy Young Men: An 18-year longitudinal Cohort Study

Henriksen Louise S. , Petersen Jorgen H. , Skakkebaek Niels E. , Jorgensen Niels , Virtanen Helena E. , Juul Anders , Toppari Jorma , Main Katharina M. ,

Background: Minipuberty denotes a period 1–6 months postnatally in boys during which a transient activation of the hypothalamic-pituitary-gonadal axis is observed. This early hormone activation can be used diagnostically in patients suspected of pituitary deficiency and differences in sex development. However, its significance for prediction of reproductive function in healthy young men is unknown.Objective: To eval...

hrp0097p1-554 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

The Evaluation of Cranial Magnetic Resonance Images of Rapidly Progressive Early Puberty Cases

Kilinç Uğurlu Aylin , Özdem&idot;r Gökçe Ayse , Çakir Gündoğan Seçil , Seçil EkşİOğlu Ayşe , Boyraz

Mehmet

Purpose: We aimed to determine the frequency and distribution of intracranial pathologies in patients over 8 years of age by evaluating MRI images of patients diagnosed with early puberty-rapidly progressive.Materials and Methods: The study comprised 118 female patients diagnosed with precocious puberty (PP) and rapidly progressive early puberty (RPEP). The onset of puberty in girls before the age of 8 years is defined a...