hrp0089p3-p387 | Thyroid P3 | ESPE2018

Graves’ Disease, Methimazole and SLE-like Reaction:A Case Report

Yafi Michael , Pillai Chanthu , Cox Charles

Background: Graves’ disease therapy in young children may be challenging due to lack of therapy options. The safety of Radioiodine Ablation (RIA) has not been proven in children under age of 10 years. Propylthioracil (PTU) therapy has been linked to hepatic failure and became contraindicated in pediatrics.The case: A 6-year-old female was diagnosed with Graves ‘disease and treated with Methimazole (MTZ) and Propranolol. A few days after startin...

hrp0097fc7.6 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

GnRHa response patterns of testis expressed genes in cryptorchid boys

Hadziselimovic Faruk , Verkauskas Gilvydas , Stadtler Michael

Introduction: Most testis expressed (TEX) genes are testis-specific and evolutionarily conserved and several studies have reported important roles of TEX11, TEX12, TEX14, TEX15 and TEX 101 in mammalian fertility. Retrotransposons are thought to be critical for the evolution of mammalian genomes. TEX19 functions in the post-translational regulation of L1 retrotransposons, which are involved in maintaining trans-generational genome stability. In boys with crypto...

hrp0097rfc7.3 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

Histone code, cryptorchidism,infertility

Hadziselimovic Faruk , Verkauskas Gilvydas , Stadtler Michael

Introduction: Multiple studies have demonstrated that histone lysine methyltransferases regulate gene transcription, thereby influencing cell proliferation, cell differentiation, cell migration, and tissue invasion.Aim of the study: Here we describe the key functions of histone lysine methyltransferases and chromatin remodeling genes and summarize their role in infertility.Patients and Meth...

hrp0098rfc9.6 | Sex Endocrinology and Gonads | ESPE2024

GnRHa treatment of cryptorchidism alters testicular sumo gene expression

Hadziselimovic Faruk , Verkauskas Gilvydas , Stadler Michael

Introduction: Reversible post-translational modifications (PTMs) dynamically regulate the activities of numerous proteins. The Small Ubiquitin-related Modifier (SUMO) proteins are conjugated to lysines in their target proteins in a process termed SUMOylation. This PTM regulates, among others, transcription, gene silencing, chromatin structure and DNA repair. Here, we investigated the expression of five SUMO genes in testicular samples from patients with crypto...

hrp0098rfc15.1 | Late Breaking | ESPE2024

Altered expression of epigenetic regulators is associated with high infertility risk in patients diagnosed with cryptorchidism.

Hadziselimovic Faruk , Verkauskas Gilvydas , Stadtler Michael

Introduction: Resetting the epigenome in human primordial germ cells is critical for their development. It has been shown that a regulatory network established by SOX17 and PRDM1/BLIMP1 represses DNA methylation pathways and activates TET-mediated hydroxymethylation. (1) Testicular samples from high infertility risk (HIR) cryptorchid boys with defective mini-puberty and impaired differentiation of Ad spermatogonia display altered expression of genes encoding h...

hrp0097p2-193 | Adrenals and HPA Axis | ESPE2023

Patient with Carney complex syndrome due to PRKAR1A mutation.

Ioannis-Anargyros Vasilakis , Barouti Konstantina , Sertedaki Amalia , Giannopoulou Effrosyni , Markopoulou Panagiota , Zosi Paraskevi , Lykopoulou Evangelia , Christopoulos Nikolaos , N. Zografos George , Valari Manthoula , Stefanaki Kalliopi , A. Stratakis Constantine , Charmandari Evangelia , Kanaka- Gantenbein Christina

Introduction: Carney Complex is a rare genetic disorder inherited in an autosomal dominant manner or may occur sporadically due to de novo mutations. It is characterized by the presence of cardiac myxomas, psammomatous melanotic schwannomas, skin pigmentation (blue nevi, lentigines) and multiple endocrine and non- endocrine tumors. It is caused by inactivating mutations or large deletions of the PRKAR1A gene. Management of the syndrome involves ongoing surveil...

hrp0095p1-81 | Fat, Metabolism and Obesity | ESPE2022

The relationship between body mass index, adipose indices measured by whole-body DXA and markers of cardio-metabolic risk in survivors of childhood medulloblastoma

Cima Luminita-Nicoleta , Iliescu Marina , Soare Iulia , Nedelea Lavinia , Oprescu Raluca , Tarna Mihaela , Comsa Codruta , Dragomir Monica , Gabriela Barbu Carmen , Fica Simona

Background: Endocrine disturbances are the most prevalent complications in childhood cancer survivors (CSS), especially in those treated with cranial and cervical radiation for brain tumours, such as medulloblastoma. Recent data have shown frequent delays in the diagnosis and treatment of these complications that may lead to potential side-effects on general health. Apart from the well-known hypothalamic–pituitary and growth disorders observed in CSS, th...

hrp0095p2-70 | Diabetes and Insulin | ESPE2022

Familial Genetic Syndrome of Severe Insulin Resistance and Hyperandrogenemia in a young girl with Polycystic Ovary Morphology

Patriciu Zubascu Gheorghita , Florina Predescu Andrada , Maria Stancu Ana , Tarna Mihaela , Nicoleta Cima Luminita , Alnuaimi Osama , Tincuta Petca Aida , Plaiasu Vasilica , Fica Simona , plate and mineral metabolism growth

Introduction: Signs of hyperandrogenemia are common through adolescent and young females, hirsutism affecting 5% of reproductive -aged women. The most common cause of hyperandrogenemia and insulin resistance (IR) is polycystic ovary syndrome (PCOS) (1). The differential diagnosis includes congenital adrenal hyperplasia (CAH) (2), androgen secreting tumors, but also very rare genetic syndromes of IR.Case report: A 13 year...

hrp0095p2-214 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Central precocious puberty - an unusual paraneoplastic manifestation of a nephroblastoma?

Stancu Ana-Maria , Gheorghita Zubascu Patriciu , Iliescu Marina , Tarna Mihaela , Andrei Marian , Comsa Codruta , Antonie Lavinia , Nicoleta Cima Luminita , Fica Simona

Introduction: Nephroblastoma or Wilms tumor is the most common pediatric abdominal malignancy. Typically, it is found in children younger than 5 years old, girls being more likely to have Wilms tumor than boys. The etiology of the disease is genetic, due to alteration in the development of the genitourinary tract.[1] Treatment is represented by surgery (unilateral nephrectomy), chemo- and radio-therapy. Paraneoplastic endocrine disorders may occur, but there a...

hrp0095p2-247 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

“In her bigger sister's footsteps”. A case of precoccious puberty in 2 caucasian sisters

Iliescu Marina , Nicoleta Cima Luminita , Andrei Marian , Tarna Mihaela , Stancu Ana-Maria , Oprescu Raluca , Sarbu Rodica , Smadeanu Roxana-Elena , Fica Simona

We present the cases of a 3 yo girl diagnosed with precoccious puberty, with a personal history of premature telarchy, genital hair development and vaginal blood discharge at 1yo 2mo, currently in treatment with GnRH agonist, and the case of her younger sister, aged 1 yo, who also presented with premature telarchy. They have 2 older siblings, both of them are clinically healthy boys. Their mother and paternal aunt had normal pubertal development. No other history from females ...