Rijetki oblici kongenitalne adrenalne hiperplazije

master's thesis

• Title (english): Rare forms of congenital adrenal hyperplasia
• Author: Iva Tkalčec
• Mentor: Katja Dumić Kubat (mentor)
• Committee member: Jurica Vuković (predsjednik povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Committee member: Katja Dumić Kubat (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Pediatrics); Zagreb
• Defense date and country: 2022-07-15, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract

Kongenitalna adrenalna hiperplazija (KAH) je skupina autosomno recesivnih nasljednih poremećaja uzrokovanih nedostatkom nekog od enzima potrebnih za sintezu steroidnih hormona u kori nadbubrežnih žlijezda. Mutacije u genima koji kodiraju za enzime nužne u steroidogenezi dovest će do bloka u sintezi kortizola i/ili aldosterona. Hipersekrecija ACTH, do koje dolazi zbog negativne povratne sprege uslijed manjka kortizola, uzrokuje hiperplaziju kore nadbubrežnih žlijezda, potiče sintezu i nagomilavanje intermedijarnih produkata u steroidogenezi prije enzimskog bloka, te steroida za čiju sintezu nije potreban enzim koji nedostaje. Ovisno o tome koji se od intermedijarnih i krajnjih produkata sinteze steroida nađu u povećanim ili smanjenim količinama, svaki od enzimskih defekata očituju se i odgovarajućim kliničkim slikama: virilizacijom ženske djece, ali s druge strane i manjkavom maskulinizacijom muške djece, hipoglikemijom, povećanim renalnim gubitkom soli i hipotenzijom, no s druge strane, i hipernatremijom i hipertenzijom, s tim da se bilo koji od ovih simptoma može javiti pojedinačno ili u raznim međusobnim kombinacijama. Najčešći oblik KAH-a nastaje zbog manjka enzima 21-hidroksilaze. Ostali, rjeđi oblici KAH mogu biti uzrokovani manjkom drugih enzima, koenzima ili proteina koji sudjeluju u steroidogenezi. Dijagnoza se postavlja na temelju kliničke slike i mjerenjem steroidnih hormona i njihovih prekursora, a potvrđuje se molekularnim testiranjem. Precizna i brza dijagnoza ovim bolesnicima nerijetko spašava život, određuje način liječenja i praćenja te omogućava adekvatno genetičko savjetovanje.

Abstract (english)

A group of autosomal recessive diseases known as congenital adrenal hyperplasia (CAH) are brought on by a deficiency in one of the enzymes necessary for the synthesis of steroid hormones in the adrenal cortex. Mutations in the genes encoding for these enzymes will result in an enzyme deficiency and, as a result, a block in the production of cortisol and/or aldosterone. Hypersecretion of ACTH, which results from negative feedback brought on by a lack of cortisol, causes the adrenal cortex hyperplasia, stimulates the production of intermediate products in steroidogenesis prior to enzyme blockade, and stimulates the production of steroids for which the missing enzyme is not required. Each enzyme deficiency presents as the associated clinical picture depending on which of the intermediate and end products of steroid production are found in increased or decreased amounts leading to either virilization of female children, deficient masculinization of male children, hypoglycemia, increased renal salt loss and hypotension, but on the other hand, hypernatremia and hypertension, with the fact that any of these symptoms can occur individually or in various combinations. The most common form of CAH is caused by a deficiency of the 21-hydroxylase enzyme. Lack of other steroidogenesis-related enzymes, coenzymes, or proteins can result in additional, more rare types of CAH. The clinical picture and measurements of steroid hormones and their precursors are used to make the diagnosis, which is then supported by molecular testing. These patients' lives can saved by an accurate and prompt diagnosis, which also establishes the course of treatment and follow-up and as well ensures adequate genetic counseling.

• Keywords: steroidogeneza; adrenalna hiperplazija; adrenalna kriza; dvosmisleno spolovilo
• Keywords (english): steroidogenesis; adrenal hyperplasia; adrenal crisis; ambiguous genitalia
• Language: croatian
• URN:NBN: urn:nbn:hr:105:549934
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2023-03-20 08:48:05