Turner’s Syndrome: A Paediatric Perspective

Abstract

In childhood the symptoms with the greatest impact on girls with Turner’s syndrome are: (1) congenital cardiac abnormalities (which can be corrected by surgical intervention); (2) short stature (mean adult height between 142 and 147 cm); and (3) ovarian failure (absent spontaneous puberty). Recent studies have shown that growth hormone (GH) treatment in young girls (8 years of age or younger) with Turner’s syndrome results in normalization of adult height in most of the girls when using the ‘standard’ GH dose of about 4 IU/m² per day (≈0.045 mg/kg per day). Higher GH doses (6 or 8 IU/m² per day) or the use of oxandrolone may be more effective, but their efficacy on adult height and safety in the very long term still have to be proven. If GH treatment is started early, low-dose oestrogens for induction of puberty can be given at 12 years of age without interfering with the capability of the GH treatment to normalize adult height. GH does not seem to have negative side effects on body proportions, cardiac dimensions, blood pressure, carbohydrate metabolism or bone mineral density.

Turner syndrome: Four challenges across the lifespan

“…Since androgens appear to be important for libido and sexual satisfaction in women [Sherwin and Gelfand 1987;Goldstat et al 2003], this relative androgen deficiency may also contribute to impaired sexuality in women with TS. Health care providers are becoming increasingly aware of the various psychosocial challenges faced by girls and women with TS [Saenger 1996;Rosenfeld 2000;Ross 2001;Sas and de Muinck Keizer-Schrama 2001;Elsheikh et al 2002;Frias and Davenport 2003]. Parents and HCPs need to remain vigilant in monitoring their daughters and patients respectively, and provide the means through which girls may acquire the necessary skills to enter adulthood as confident, self-assured women.…”

“…The remarkable variability and sometimes subtle physical appearance of individuals with TS often contribute to a delay in diagnosis for many of these girls [Savendahl and Ten percent of women with TS, particularly those who experience spontaneous menses, do not receive a diagnosis until adulthood [Elsheikh et al 2002]. Recognizing this diagnostic delay, multiple clinicians have also called for an early diagnosis of TS, not only for the medical benefits but also for the opportunity to ensure psychological well-being [Saenger 1996;Rosenfeld 2000;Sas and de Muinck Keizer-Schrama 2001;Elsheikh et al 2002].…”

“…Published timelines for administering various tests and explanations of symptoms and complications of TS serve as references for health care providers [Sylven et al 1993;Saenger 1996;Savendahl and Davenport 2000;Ross 2001;Sas and de Muinck Keizer-Schrama 2001;Cunniff 2002;Elsheikh et al 2002;Frias and Davenport 2003]. Although general information addressing future health concerns of women with TS exists, such as osteoporosis, hearing loss, and cardiovascular disease, the majority of women with TS are not monitored adequately for these late-onset diseases and conditions [Ross 2001;Elsheikh et al 2002].…”

Cardiac Status after Childhood Growth Hormone Treatment of Turner Syndrome

“…Short stature is a common clinical finding. In northwestern Europe, mean adult height in untreated TS is approximately 145 cm, or 20 cm below normal average height in women (2). GH treatment has been shown to increase adult height in most patients with TS and currently it is a well-established therapy (2,3).…”

“…In northwestern Europe, mean adult height in untreated TS is approximately 145 cm, or 20 cm below normal average height in women (2). GH treatment has been shown to increase adult height in most patients with TS and currently it is a well-established therapy (2,3). In healthy controls supraphysiological doses of GH rapidly induce changes in left ventricular (LV) function (increased cardiac index) and size (hypertrophy and concentric remodeling) (4).…”