hrp0084p3-1129 | Pituitary | ESPE2015

Thickened Pituitary Stalk with Central Diabetes Insipidus: What Diagnosis?

Merazka Amel , Achir S , Baz O , Foudil D , Mimouni S

Background: Central diabetes insipidus (DIC) is usually the final result of lesions affecting the hypothalamic–neurohypophysal system, for the children, Germinoma is the main reason. The MRI aspect is often limited to thickness pituitary stalk with loss of hyperintensity of the neurohypophysis.Objective and hypotheses: Thickening of pituitary stalk is suggestive of germinoma, the clinical picture is dominated by a DIC (90%), associated to hypopituit...

hrp0098p2-256 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Normosmic Congenital Hypogonadotropic Hypogonadism caused a missense mutation in the GnRHR gene in a Female Adolescent

Cadete Vitória , Figueiredo Sofia , Conceição Carla , Carneiro Rita , Farela Neves João , Galhardo Júlia

Background: Congenital hypogonadotropic hypogonadism (CHH) is defined by a partial or complete failure of pubertal development due to inadequate secretion of gonadotropins, which is triggered by deficient GnRH activity. Diagnosis is confirmed by low sex hormone levels and low or inappropriately normal levels of LH and FSH, in the absence of anatomical abnormalities in the hypothalamic-pituitary axis, and without other pituitary hormone deficiencies.<p clas...

hrp0095p2-172 | Growth and Syndromes | ESPE2022

Practicability and user friendliness of height measurement by proof of concept APP using Augmented Reality, in 22 healthy children

Rösler Antonia , Gasparatos Nikolaos , Hermanussen Michael , Scheffler Christiane

Background: Child growth is a dynamic process and influenced by various environmental factors. When measured at short intervals, growth of healthy children shows certain characteristic patterns, which have rarely been studied, but are of great importance for clinical purposes. The study was approved by the Ethical Committee of the University of Potsdam.Aim: To see whether measurements of height using photographic display...

hrp0095p2-255 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Expression of Adam and Adamts Proteases Following Currative GnRHa Treatment for Cryptorchidism

Hadziselimovic Faruk , Verkauskas Gilvidas , Vincel Beata , Stadler Michael

Aim of the Study: ADAM/ADAMTS family members encode extracellular, multidomain proteolytic enzymes. Mutant Adamts16 mice display cryptorchidism and sterility. We hypothesize that gonadotropin-regulated ADAM/ADAMTS genes are involved in testicular development during mini-puberty.Patients and Methods: Testicular biopsies for histological and RNA-Sequencing analysis from bilateral cryptorchid boys were analyzed. RNA samples...

hrp0092rfc10.2 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Cryptorchid Boys with Abrogated Mini-Puberty Display Differentially Expressed Genes Involved in Sudden Infant Death Syndrome

Hadziselimovic Faruk , Verkauskas Gilvydas , Vicel Beate , Stadler Michael

Background: The long QT syndrome is the most frequent a well-established causative factor, among cardiac channelopathies, for the sudden infant death syndrome (SIDS). It accounts for approximately 12% of the cases. The non-transcriptional regulation of slowly activating delayed rectifier K+ currents and suppression of L-type Ca2+ currents by testosterone is a regulatory mechanism of cardiac repolarization that potentially contributes to the control...

hrp0092p1-164 | Adrenals and HPA Axis (1) | ESPE2019

The Urinary Steroid Signature of Premature Adrenarche

Janner Marco , Sommer Grit , Groessl Michael , Flück Christa

Background: Adrenarche describes the developmental event of the human adrenal cortex when the zona reticularis increases the synthesis of C19 steroids (DHEA/-S) markedly at around 6-8 years of age. Early appearance of this event is called premature adrenarche (PA) and has been associated with adverse outcomes including polycystic ovary syndrome and metabolic syndrome. Recently novel biosynthetic pathways of androgen production have been revealed, but their rol...

hrp0092p1-363 | GH and IGFs (2) | ESPE2019

Metabolism of Somapacitan, a Long-Acting Growth Hormone Derivative, in Human Subjects

Damholt Birgitte B , Bjelke Mads , Helleberg Hans , Rasmussen Michael H

Background: Somapacitan is a reversible albumin-binding growth hormone (GH) derivative developed for once-weekly administration in patients with GH deficiency (GHD). It consists of a human GH backbone, similar to endogenous human GH, with one amino acid substitution, attached to an albumin binder via a linker chain.Objective: Absorption, metabolism and excretion (AME) of somapacitan were investigated in a Phase 1 trial (...

hrp0089fc2.2 | Bone, Growth Plate &amp; Mineral Metabolism 1 | ESPE2018

Whole Genome Sequencing Reveals Novel Intragenic Deletions of GNAS as Causes of Pseudohypoparathyroidism Type 1a

Li Dong , Bupp Caleb , Hakonarson Hakon , Levine Michael

Background: Pseudohypoparathyroidism type 1a (PHP1a) is characterized by Albright hereditary osteodystrophy (AHO) and multi-hormone resistance, most commonly to parathyroid hormone (PTH) and thyroid-stimulating hormone. This rare disorder is caused by inactivating mutations involving exons 1–13 of the imprinted GNAS gene that encodes the alpha-subunit of the stimulatory G protein (Gαs). Due to paternal imprinting of Gαs transcripts, GNAS mutati...

hrp0089rfc8.1 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

Male Fertility Genes Located in Y-Chromosomal Regions Display Differential mRNA Profiles in Response to GnRH Treatment of Cryptorchidism-Dependent Infertility

Hadziselimovic Faruk , Gegenschatz-Schmid Katharina , Verkauskas Gilvidas , Stadler Michael

Background: Undescended testes in patients with defective mini-puberty contain germ cells that fail to differentiate normally into Ad spermatogonia and ultimately leads to infertility. Six months treatment with the gonadotropin-releasing hormone GnRH increases luteinizing hormone and testosterone secretion and rescues fertility in the majority of pathological cryptorchid testes. Several Y chromosomal genes in the male-specific Y region (MSY) are essential for spermatogenesis, ...

hrp0089p3-p022 | Adrenals and HPA Axis P3 | ESPE2018

Identification of X-linked Adrenoleukodystrophy in Boys Presenting with Adrenal Insufficiency in the Absence of Adrenal Antibodies

Ryalls Michael , Gan Hoong-Wei , Biedenkapp Joe , Davison James

Adrenoleukodystrophy (ALD) is an X-linked, metabolic disorder caused by genetic deficiency of peroxisomal ALD protein resulting in accumulation of very-long chain fatty acids (VLCFA) primarily in the adrenal cortex and central nervous system. Approximately 35–40% of boys with ALD develop cerebral ALD (CALD), which causes rapidly progressive cerebral demyelination, loss of neurologic function, and death. Disease progress can be halted by allogeneic hematopoietic cell trans...