hrp0098p2-249 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Pubertal virilization in individuals with partial gonadal dysgenesis attributable to DHH mutation: a case report

Günay Aylin , Kurt İlknur , Ayaz Burcu , Karagözlü Akgül Ahsen , Ersoy Ayşenur , Bilge Geçkinli Bilgen , Yavaş Abalı Zehra , Nuri Özbek Mehmet , Güran Tülay

Introduction: Desert hedgehog (DHH) is mainly involved in testicular development and peripheral nerve sheath formation. DHH protein is produced by Sertoli cells and promotes Leydig cell development. It regulates androgen synthesis through Sertoli-Leydig cell interaction and is also involved in sex differentiation. Biallelic DHH (MIM*605423) variants are an extremely rare cause of 46,XY gonadal dysgenesis (GD). Patients may present with abnormal genita...

hrp0095p2-3 | Adrenals and HPA Axis | ESPE2022

A Rare Cause of Peripheral Precocious Puberty

Çakır Gündoğan Seçil , Kılınç Uğurlu Aylin , Özdemir Gökçe Ayşe , Özyörük Derya , Yardımcı Gönül , Kasap Yusuf , Karakuş Esra , Sarı Neriman , Seçil Ekşioğlu Ayşe , Ölçücüoğlu Erkan , Boyraz Mehmet

Introduction: Peripheral precocious puberty is a non-gonadotropin-dependent early pubertal development. Exogenous intake of sex steroids, gonadal or adrenal pathologies, ectopic hCG-secreting lesions play a role in the etiology. Adrenal tumors is a rare cause of heterosexual precocious puberty.Case: An eight-year-old female patient was admitted with the complaints of genital hair growth and breast enlargement. The patien...

hrp0098p2-239 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Clinical Follow-Up of a Case Diagnosed with POMC Deficiency Presenting with Hypoglycemia and Cholestasis

Sarıkaya Özdemir Behiye , Emel Eren Sümeyye , Melek Oğuz Melahat , Bakır Gizem , Sadiye Karadeniz Cansu , Şeyma Eken Emine , Kurnaz Erdal , Keskin Melikşah , Aslı Bala Keziban , Tok Ayşegül , Ataseven Kulalı Melike , Savaş Erdeve Şenay

Introduction: Central adrenal insufficiency due to isolated adrenocorticotropic hormone (ACTH) deficiency is rare. The etiology often involves homozygous or compound heterozygous mutations in genes related to the production and terminal differentiation of proopiomelanocortin (POMC). POMC deficiency is characterized by central adrenal insufficiency, early-onset obesity, red hair, and reduced skin pigmentation. Here, we present a case diagnosed with POMC deficie...

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) ...

hrp0092s9.1 | Heterogeneity of Paediatric Diabetes | ESPE2019

Diversity in Monogenic Diabetes Management and Prognosis

Njølstad Pål Rasmus

Monogenic forms of diabetes have specific treatments that differ from the standard care provided for type 1 and type 2 diabetes, making the appropriate diagnosis essential. Misclassification of all diabetes types may occur and healthcare providers should be aware of this possibility. A systematic approach to subjects who are newly diagnosed with diabetes can assist classification of common forms of diabetes and identify those in whom molecular investigation would be advantageo...

hrp0092fc8.1 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Hypothalamic AgRP Neurons Drive Endurance in Food-restricted Mice

Miletta Maria Consolata , Horvath Tamas L.

Diseases of food restriction, such as anorexia and bulimia nervosa, are psychiatric conditions with the highest mortality. It is not known how these disorders emerge and what determine mortality. Individuals with these disorders frequently engage in compulsive exercise. States of food restriction are associated with elevated activity of hypothalamic neurons that produce AgRP, which cells are crucial for feeding and can promote stereotypic behaviors.Here,...

hrp0092p2-49 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Successful Treatment with Enzyme Replacement Therapy in a Girl with Severe Infantile Hypophosphatasia

Heldt Katrin , L`Allemand Dagmar

Background: Infantile Hypophosphatasia (HPP) is an inborn error of metabolism characterized by low serum alkaline phosphatase activity caused by loss-of-function mutations within the ALPL-gene encoding the tissue nonspecific isoenzyme of ALP (TNSALP). TNSALP controls skeletal and dental mineralization by hydrolyzing inorganic pyrophosphate, a potent inhibitor of bone mineralization. Patients develop substantial skeletal disease, failure to thrive, and sometime...

hrp0089fc13.2 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2018

Ablation of AgRP Neurons Decreases Survival in Activity-Based Anorexia Model

Miletta Maria Consolata , Horvath Tamas L

Anorexia Nervosa (AN) is an eating disorder characterized by severe hypophagia, high levels of physical activity, harsh weight loss and an intense fear of weight gain. It has the highest mortality rate among psychiatric illnesses and, due to the unknown underlying neurobiology, it is challenging to treat. Agouti-related protein (AgRP) neurons, which are localized in the arcuate nucleus in the hypothalamus, are both necessary and sufficient or feeding in adult animals. To uncov...

hrp0086p2-p147 | Bone & Mineral Metabolism P2 | ESPE2016

The Beneficial Effect of Cinacalcet on the Treatment of vitD Resistant Rickets

Akinci Aysehan , Dundar Ismaıl

Background: Patients with vitD resistant rickets (VDRR) due to vitD receptor (VDR) mutations have extreme rickets along with alopesia, severe hypocalcemia, hypophosfatemia secondary to hyperparathroidism and elevated 1,25(OH)2vitD. Although there is no standard therapy for this patients, long-term or intermittanat i.v. or high dose oral calcium suplementations are recommended to correct the hypocalcemia and secondary hyperparathyroidism. ...

hrp0082p3-d1-823 | Growth | ESPE2014

Three-Years Height Outcome During rhGH Therapy in Severe Short Subjects Affected by Skeletal Dysplasias

Massart F , Gnesi L , Baggiani A , Miccoli M

Background: Skeletal dysplasias comprise heterogeneous disorders often characterised by short stature with abnormalities of one or more of epiphysis, metaphysis or diaphysis. Over 200 types of skeletal dysplasias are identified, most of which are autosomal dominantly inherited. Actually, surgery has attempted to correct bone deformities but drug therapy for improving their severe short stature has been rarely attempted.Objective and hypotheses: Administr...