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Genetics
Published in Manoj Ramachandran, Tom Nunn, Basic Orthopaedic Sciences, 2018
Peter Calder, Harish Hosalkar, Aresh Hashemi-Nejad
Clinically, Turner syndrome is seen as a short female with skeletal abnormalities, including cubitus valgus, medial tibial exostosis and a short fourth metacarpal/metatarsal. The condition is inherited. The paternal X chromosome is more likely to be missing, usually as a sporadic event. The diagnosis is usually made on the basis of a delay in puberty. Other physical features are webbed neck, flat chest with widely spaced nipples, low hairline, low-set ears, and a higharched palate. It is associated with anomalies of the urinary tract system and coarctation of the aorta. No treatment is usually required for the increased cubitus valgus angle and short fourth and fifth metacarpals. Idiopathic scoliosis should be treated in the standard fashion. Malignant hyperthermia is common with anaesthetic use.
Peripheral nerve disorders
Published in Ashley W. Blom, David Warwick, Michael R. Whitehouse, Apley and Solomon’s System of Orthopaedics and Trauma, 2017
Michael Fox, David Warwick, H. Srinivasan
The ulnar nerve is easily felt behind the medial epicondyle of the humerus (the ‘funny bone’). It can be trapped or compressed within the cubital tunnel (by bone abnormalities, ganglia or hypertrophied synovium) (Figure 11.29), proximal to the cubital tunnel (by the fascial arcade of Struthers) or distal to the cubital tunnel as it passes through the two heads of flexor carpi ulnaris to enter the forearm (Osbourne’s canal). Sometimes it is ‘stretched’ by a cubitus valgus deformity or simply by holding the elbow flexed for long periods.
The Small Intestine (SI)
Published in Narda G. Robinson, Interactive Medical Acupuncture Anatomy, 2016
Clinical Relevance: Entrapment of the ulnar nerve typically occurs at four sites: the arcade of Struthers (medial intermuscular septum), the ulnar groove, the cubital tunnel (humeroulnar arcade), and the exit point between the two heads of the flexor carpi ulnaris.1 Compressive neuropathy of the ulnar nerve at the elbow is one of the most common nerve compressions of the thoracic limb.2Figure 6-15 reveals the abundance of muscular and connective tissue elements that might contribute to compression. An aponeurosis may form between the flexor digitorum superficialis and the flexor carpi ulnaris muscles, entrapping the nerve. Motor and/or sensory abnormalities can develop over the ulnar aspect of the forearm and hand. Flexion of the elbow increases intraneural pressure six-fold.3 The size of the canal through which the ulnar nerve travels narrows by more than half as the oval passageway becomes elliptical. Cubitus valgus deformity, whether acquired or congenital, increases the likelihood of ulnar neuropathy. Athletes may acquire ulnar neuropathy after repeated valgus stress at the elbow. Sports putting the nerve at risk include baseball, javelin throwing, tennis, gymnastics, and football.4 Acupuncture, manual therapy, laser therapy, and stretching can contribute to conservative management to alleviate myofascial restriction compressing the nerve. SI 8 would constitute the primary treatment focus.
Premature ovarian insufficiency: an International Menopause Society White Paper
Published in Climacteric, 2020
N. Panay, R. A. Anderson, R. E. Nappi, A. J. Vincent, S. Vujovic, L. Webber, W. Wolfman
Turner syndrome occurs in 1 in 2500 births and involves the complete or partial loss of one X chromosome (deletions, translocations, inversions, isochromosomes, and sometimes mosaicisms)17. The loss of X-linked genes results in X inactivation of important X-related gene products that escape inactivation by the second X18. These women are usually born with a normal number of primordial follicles that undergo accelerated atresia19. Some women with primary amenorrhea, especially those with Y material in the karyotype, may have streak gonads. Women with a mosaic X pattern are more likely to present at variable times after menarche20. They may have phenotypic characteristics including short stature, lymphedema, webbed neck, visual impairment, strabismus, otitis media, high arched palate, wide-spaced nipples, shield chest, multiple nevi, cubitus valgus, a short fourth metacarpal, as well as cardiac (coarctation or aortic anomalies) and renal tract abnormalities. Women with Turner syndrome are best managed in multidisciplinary clinics due to possible long-term health issues including potential pregnancy risks, hearing and learning difficulties, diabetes, celiac disease, hypothyroidism, hepatic dysfunction, dyslipidemia, coronary artery disease, and cerebrovascular disease21. If Y-chromosome material is present in some cells, gonadectomy is recommended22.
Disproportion and dysmorphism in an adult Belgian population with Turner syndrome: risk factors for chronic diseases?
Published in Acta Clinica Belgica, 2020
An-Sofie Van De Kelft, Charlotte Lievens, Katya De Groote, Laurent Demulier, Julie De Backer, Guy T’Sjoen, Margarita Craen, Bert Callewaert, Jean De Schepper
Turner syndrome (TS) affects approximately 1 in 2500 females and is defined by a complete or partial loss of one X chromosome [1,2]. TS is mainly diagnosed during childhood and adolescence, due to an impaired skeletal growth and/or absent pubertal development, and in general at an earlier age when associated with dysmorphism and/or body disproportion [3,4]. Several clinical features such as neck webbing, high arched palate, low hairline, cubitus valgus and shield thorax occur in a variable percentage, whereas short stature, mainly due to a reduced growth of the lower limbs, is one of the most consistent phenotypical characteristics [2,4]. In addition, relative broader shoulders and pelvis are typical anthropometric findings in adult TS women. These findings are responsible for their more coarse and stocky figure [5,6]. Although most TS girls are currently treated with GH, increasing their final height with about 5–10 cm, it has not been well studied if GH treatment alters the degree of skeletal disproportion [7,8].
Features of Turner syndrome in patients managed at the adult endocrinology clinic, Steve Biko Academic Hospital
Published in Journal of Endocrinology, Metabolism and Diabetes of South Africa, 2023
Our population included 88.2% black adults, and 64.7% had a mosaic Turner syndrome karyotype. Our retrospective analysis of clinical features showed a higher percentage of patients with cubitus valgus, oedema of hands or feet, multiple pigmented nevi and nail dysplasia compared with that reported in a recent study by Steiner and Saenger.25 Our population also had less strabismus, ptosis and high-arched palates. Because our patients are mainly from a lower socioeconomic background, this can introduce potential bias when evaluating cognitive function due to limited access to education. Considering this potential bias, we opted not to evaluate or report on cognitive function.