Maria Alevizaki, Ilpo Huhtaniemi
The pituitary glycoprotein hormones thyrotrophin (thyroid-stimulating hormone, TSH), lutrophin (luteinising hormone, LH) and follitrophin (follicle-stimulating hormone, FSH), as well as the placental choriongonadotrophin (human chorionic gonadotrophin, hCG) are composed of a common α-subunit and a specific β-subunit, coupled by noncovalent interactions …
Corina Neamţu, Claudiu Ţupea, Diana Păun, Anca Hoisescu, Adina Ghemigian, Samuel Refetoff, Chutintorn Sriphrapradang
Thyroid hormones (TH) exert their actions by binding nuclear receptors alpha (TRα1) and beta (TRß1 and TRß2). Resistance to thyroid hormone (RTH) is a clinical syndrome with various clinical manifestations, its hallmark being decreased tissue sensitivity …
Costas Koufaris, Angelos Alexandrou, Carolina Sismani, Nicos Skordis
Familial neurohypophyseal diabetes insipidus (FNDI) is a disorder characterized by excess excretion of diluted urine (polyuria) and increased uptake of fluids (polydipsia). The disorder is caused by mutations affecting the AVP-NPII gene, resulting in absent or deficient secretion of the antidiuretic hormone arginine vasopressin …
Carmen Entrala-Bernal, Cristina Montes-Castillo, Maria Jesus Alvarez-Cubero, Carmen Gutiérrez-Alcántara, Francisco Fernandez-Rosado, Esther Martinez-Espίn, Carolina Sánchez-Malo, Piedad Santiago-Fernández
Kallmann Syndrome (KS) is a genetic disease of embryonic development which is characterized by the association of hypogonadotropic hypogonadism (HH) due to a deficit of the gonadotropin-releasing hormone (GnRH) and a hypo/anosmia (including a hypoplasia of the nasal sulcus and agenesis of the olfactory bulbs) …
Eduarda Resende, Gemma Novoa Gόmez, Marta Nascimento, Lourdes Loidi, Rebeca Saborido Fiaño, Paloma Cabanas Rodrίguez, Lidia Castro-Feijoo, Jesús Barreiro Conde
Autoimmune polyglandular syndrome type 2 (type 2 APS), or Schmidt’s syndrome, is defined by the presence of Addison’s disease in combination with type 1 diabetes and/or autoimmune thyroid disease. The estimated prevalence of this syndrome is 1.4-4.5 per 100,000 inhabitants and it is more frequent in middle-aged females …
Vasiliki Koika, Anastasia K. Armeni, Neoklis A. Georgopoulos
CASE PRESENTATION: A 36-year old man, operated on for cryptorchidism at the age of 8 years, was referred to the Outpatient Clinic of Reproductive Endocrinology for investigation of infertility. Clinical examination revealed ambiguous genitalia: penis 4-5 cm, testicular volume 2-3 ml, hypospadias, hypertrophic foreskin and scrotum bifida. Mild hypertension was confirmed. No skeletal malformations were detected …
Evaggelia Zapanti, Aikaterini Polonifi, Michalis Kokkinos, George Boutzios, Georgia Kassi, Narjes Nasiri Ansari, Eva Kassi, Aris Polyzos
PURPOSE: Inactivating mutations of the calcium-sensing receptor (CASR) gene cause familial hypocalciuric hypercalcaemia (FHH). Here we report three siblings with FHH caused by a novel mutation in the CASR. METHODS: The case subject was a 60-year-old patient referred because of mild hypercalcaemia …