Acronym for Congenital Adrenal Hyperplasia and tenascin X

This pathology concerns about 10 % of the so-called classic cases of congenital adrenal hyperplasia. It is a contiguous genes syndrome caused by the deletion of the CYP21A2 (coding for the 21-hydroxylase: congenital adrenal hyperplasia) and TNXM (6p21) (coding for the tenascin X: Ehlers-Danlos syndrome hypermobile form) genes.

Joint hyperlaxity is sometimes unrecognized: arthralgia with early osteoarthritic lesions following repeated dislocations; velvety and hyperextensible skin; early scoliosis; dilation of the aortic arch in 10 %; orthostatic hypotension, irritable bowel. The clinical presentation is more severe in case of bi-allelic form: easy bruising, prolapse of some organs (rectum), cardiac abnormalities (ASD, pulmonary insufficiency).

Anesthetic implications:

adapt the corticosteroid replacement therapy (see Congenital adrenal hyperplasia). Check the mobility of the cervical spine and mouth opening; recurrent subluxations and dislocations of the jaw can lead to temporomandibular ankylosis; gentle laryngoscopy to avoid luxation of the jaw. Local anesthesia by infiltration seems less effective (mutation in the Na channels ?): both failures and successes of perimedullary and peripheral blocks have been described. For peripheral blocks, it is wise to use ultrasound guidance and use an approach that avoids crossing large muscle masses (risk of hematoma). Echocardiography: mitral valve prolapse or other abnormality ?  Increased risk of pneumothorax.

References :

-        Merke DP, Auchus RJ.
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
NEJM 2020; 383: 1248-61

-        Woodcock T, Barker P, Daniel S, Fletcher S et al.
Guidelines for the management of glucocorticoids during the peri-operative period for patients with adrenal insufficiency.
Anaesthesia 2020;75:654-73

-        Heath C, Siafarikas A, Sommerfield A, von Ungern-Sternberg BS.
Peri-operative steroid management in the paediatric population.
Acta Anaesth Scand 2021; 65:1187-94.

-        Miller WL, Merke DP. Tenascin-X,
Congenital Adrenal Hyperplasia, and the CAH-X syndrome.
Horm Res Paediatr 2018;89:352–61

-        Marino R, Moresco A, Perez Garrido N, Ramirez P, Belgorosky A. 
Congenital adrenal hyperplasia and Ehlers-Danlos syndrome.
Front. Endocrinol. 2022 ; 13:803226 ; doi: 10.3389/fendo.2022.803226

-        Neice AE, Stubblefield EE, Woodworth GE, Aziz MF.
Peripheral nerve blocks in patients with Ehlers-Danlos syndrome, hypermobility type : a case series.
J Clin Anesth 2016; 33: 36-30.

-        Wiesmann T, Castori M, Malfait F et al.
Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s).
Orphanet J Rare Dis 2014 ; 9 :109

-        Vecchione T, Waisel D, Boretsky K.
Peripheral nerve blocks in children and adolescents with Ehlers-Danlos syndrome hypermobility type.
Reg Anesth Pain Med 2021; 46:184-5.

Updated: December 2022