Endocrine Abstracts

Recent investigations into the pathogenesis of Kallmann's syndrome (KS) have pointed to the importance of anosmin-1 and FGFR1 (fibroblast growth factor receptor-1), the gene products for the X-linked and an autosomal dominant form of KS respectively, in olfactory, GnRH-1 neuronal systems and kidney ontogeny. Disturbed anosmin-1/FGFR1 pathways lead to partial or complete failure of OB (olfactory bulb) development and arrest of GnRH-1 neuronal migration, explaining the predomina...

The NR0B1 (Nuclear Receptor Subfamily 0, group b, member 1) gene, originally called DAX1, encodes an atypical member of the nuclear receptor family. It is proposed to co-regulate other nuclear receptors, repress transcription of downstream gene targets such as steroidogenic factor 1 and play a role in testis development and spermatogenesis. The gene has two exons of 1,168 and 345bp, separated by a 3,385bp intron. It is expressed in the hypothalamic-pitutary-adrenal/gonadal axi...

Introduction: Loss of anosmin-1 function underlies the pathogenesis of X-linked Kallmann's syndrome (X-KS), a disorder characterized by anosmia (loss of smell) and hypogonadotrophic hypogonadism, due to olfactory bulb (OB) dysgenesis and failed migration of gonadotrophin releasing hormone (GnRH) neurons. Additional phenotypic features include bimanual synkinesis and unilateral renal agenesis. Anosmin-1 contains a whey acidic protein-like (WAP) domain and four contiguous fibron...

The defining features of Kallmann's syndrome (KS) are isolated hypogonadotrophic hypogonadism (IHH) and anosmia, the consequences of a GnRH neuronal migratory defect and olfactory bulb agenesis respectively. Additional features in X-linked Kallmann's syndrome (XKI), include unilateral renal agenesis and bimanual synkinesis respectively. XKI results from mutations of KALIG 1, on Xp22.3. The encoded protein anosmin-1, is a hexamodular secreted cell membrane associated extracellu...

IntroductionKallmann syndrome (isolated hypogonadotrophic hypogonadism and anosmia), is caused by loss of KAL-1 function in the developing human olfactory system. Gene function is also conserved in eukaryotes, including nematodes, chick and rodents. However, the precise role of kal-1 in the developing nervous system is unclear. D.melanogaster an ideal model to study kal-1 function, as many molecular aspects of olfactory development are shared with mammal...

IntroductionThe main population of GnRH-1 neurons that control activity of the HPG axis in primates originate in the peripheral olfactory system. Recently, in vitro primary cell cultures from human fetal olfactory epithelium, named FNC-B4, have been shown to express GnRH-1 and are likely to be the precursor of the adult-like GnRH-1 system distribution in the CNS. A number of external and cell-autonomous factors are known to control migration of these spe...

We report the case of a 73-year-old Cypriot man with bilateral adrenal histoplasmosis. He had spent many years working in Southern Africa and had retired to Cyprus more than ten years ago. One year prior to diagnosis he underwent an elective cholecystectomy. Pre-operatively bilateral adrenal co-incidentalomas were noted on ultrasound and computed tomography (CT). Fine needle aspiration showed adipocytes within the gland and the patient had no further investigations at this tim...

IntroductionIn higher vertebrates, the main population of forebrain GnRH1 neurons originate in the embryonic olfactory placode. Early migration of GnRH neurons in mice - from the nasal placode into the nasal mesenchyme - depends on NELF (nasal embryonic LHRH factor). Furthermore, migratory GnRH cells express the leptin receptor. The precise role(s) of leptin during neuroendocrine GnRH development are unknown but it may combine with Neuropeptide Y (NPY) t...

Background: Hypopituitarism is often part of the presenting clinical manifestation for patients with non-functioning pituitary macroadenomas (NFPMs). Rate of recovery of hypothalamic-pituitary endocrine axes following therapy is uncertain with no clear predictive factors.Aims: The aim of this study was to assess the degree of hypopituitarism recovery following surgery and radiotherapy in patients with NFPMs. Methods: All patients t...

Background: Non-functioning pituitary macroadenomas (NFPMs) may present with hypopituitarism. Pituitary surgery and radiotherapy pose an additional risk to pituitary function.Aims: The aim of this study was to assess the incidence of hypopituitarism pre-operatively and the impact of surgery and radiotherapy on pituitary function. Methods: All patients treated with surgery and radiotherapy for NFPMs between 1987 and 2018 with more t...