The patient with Turner syndrome: puberty and medical management concerns

Abstract

Turner Syndrome (TS) affects approximately 1 in 2500 liveborn females and is characterized by loss or structural anomalies of an X chromosome. Clinical features vary among patients; multiple organ systems can be affected. Endocrinologists are involved in the management of short stature, delayed puberty, and infertility. Endocrine therapies can include growth hormone, estrogen, and progestagen to promote linear growth and pubertal development. The duration of estrogen and progestagen treatment (HRT) is generally more than 40 years. There is not one standard HRT protocol that is suitable for all women. Thus, general guidelines are provided for HRT to induce pubertal development. Additional considerations regarding choice of HRT include thrombotic risk and disorders associated with thrombophila. Involvement of cardiologists is important because approximately 50% of patients with TS have congenital structural cardiac anomalies linked to an increased risk for aortic dissection and rupture. Although oocyte donation offers the chance to carry a pregnancy, accumulating information has highlighted the potential dangers associated with pregnancy. Advances in the care of infants, girls, and women with TS have been achieved. Management of infants, girls, and women with TS involves coordinated care from a multi-disciplinary team including endocrinologists, cardiologists, geneticists, otolaryngologists, behavioral health experts, nurse educators, and social workers.

Outcome of linear growth and onset of menarche following therapy in children with Turner syndrome followed up at a tertiary care referral centre: An interim report from Sri Lanka

“…The karyotype is 45, X in approximately 50% of TS patients and 20-30% demonstrate mosaicism while Y chromosome material is reported to be found in 3-6% of them 2,3,6 . In our cohort of patients, 65% had a karyotype of 45, X and mosaicism was seen in 20% ( Table 2).…”

“…TS is an indication for GH therapy 1,6 . Being a condition demonstrating GH resistance, the therapeutic dose of GH required is twice the amount that is needed in GH deficiency 9 .…”

“…Biochemical monitoring involves regular IGF-1 estimations to ensure optimal therapy 6 . Dose increments depend on continuous monitoring and are tailored to the needs of the patients.…”

“…HRT was offered at an age based on several factors taking into account the wishes of the patient, age of onset of puberty of the mother, elder siblings and peers and the bone age of the patients 1,6 . A synthetic oestrogen preparation was started with a low dose and gradually increased over 2 to 3 years to simulate normal physiological puberty and a progestogen preparation was introduced during the course of treatment 1,4,7,8 .…”

Turner syndrome caused by rare complex structural abnormalities involving chromosome X

“…Short stature and ovarian insufficiency are typical features that occur in >90% of TS cases. Other features, including skeletal dysplasia (such as cubitus valgus and shortened fourth or fifth metacarpal), heart defects, characteristic facial abnormalities (including low hairline and low-set ears), wide-spaced nipples, nail abnormalities, renal structural anomalies and hearing impairment, have also been reported in TS patients, whereas mental retardation rarely occurs (1)(2)(3).…”