O hormônio de crescimento na síndrome de Turner: dados e reflexões

Guedes, Alexis Dourado; Bianco, Bianca; Callou, Emmanuela Quental; Gomes, Ana Luíza; Lipay, Mônica Vannucci Nunes; Verreschi, Ieda Therezinha do Nascimento

doi:10.1590/s0004-27302008000500007

Cited by 7 publications

(6 citation statements)

References 63 publications

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“…Patients who receive treatment early exhibit better results in terms of final height. [14][15][16][17] In this case, the patient began hormonal replacement therapy at around the age of ten years. Although it was started late, this treatment achieved a significant improvement in the patient's skeletal growth.…”

Section: Discussionmentioning

confidence: 97%

Growth Hormone Therapy in a Girl with Turner Syndrome – An Experience from Bangladesh

Nahar

Zabeen

Islam

et al. 2022

Jour of Diab and Endo Assoc of Nepal

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Turner’s syndrome(TS) is the most common chromosomal disorder affecting female. Genetics show that most of the patients have monosomy 45 XO and the commonest phenotype is short stature. Growth hormone deficiency is uncommon but consensus statements have endorsed GH treatment for short girls with Turner syndrome as it is found to be effective to increase growth. Here, we describe a nine year and eleven month old girl presented with short stature (Ht-124cm - 2.2 SDS). She had epicanthic fold, cutis valgus and there was no sign of puberty. The diagnosis of TS was confirmed by Karyotype which revealed chrosomomal pattern 45X0/46XX. After evaluation, rGH treatment was initiated and the dose was titrated to 9.5 mg/m2 /wk. After 6 months of therapy the height velocity rose to 10.2 cm/ year. Growth hormone treatment was stopped after 2 years and 4 months as parents were not willing to continue the therapy. The final height of the patient was 144 cm (-1.2SD). She developed spontaneous menarche and other features of puberty at the age of 12 years 4 months. In Bangladesh, we do not have much report of TS who achieved growth with GH therapy. Simple and regular measurement of children’s height with chart plotting is necessary to pick up children who have short stature with TS. Girls with TS may be benefited from early diagnosis and initiation of treatment with GH.

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Section: Discussionmentioning

confidence: 97%

Growth Hormone Therapy in a Girl with Turner Syndrome – An Experience from Bangladesh

Nahar

Zabeen

Islam

et al. 2022

Jour of Diab and Endo Assoc of Nepal

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“…Loss of one copy of this gene reduces the amount of SHOX protein that is produced. A shortage of this protein likely contributes to the short stature and skeletal abnormalities [9] often seen in females with Turner syndrome [10]. …”

Section: Discussionmentioning

confidence: 99%

A Case of Premature Ovarian Failure in a 33-Year-Old Woman

Colao

Granata

Vismara

et al. 2013

Case Reports in Genetics

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Objective. To assess aetiology of a POF in a 33-year-old woman and, if possible, plan a cure. Design. Case report. Setting. medical genetics diagnostic unit in a university hospital. Patient. A 33-year-old woman with premature ovarian failure (POF). Intervention(s). Genetic counseling, karyotyping, FISH study. Result(s). Turner-like diagnosis. Conclusion(s). Most cases of POF remain idiopathic. Turner syndrome can occur in very different phenotypes; cytogenetic and molecular profiling can provide a definitive diagnosis in cases with nonclassical phenotype.

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“…Most women with TS inherit just one copy of the SHOX gene. This state of haploinsufficiency seems to be substantially responsible for the height deficit in these patients (Guedes et al, 2008). Nevertheless, the haploinsufficiency of the SHOX gene does not explain all the anomalies in TS which are absent in isolated SHOX deficiency, suggesting that other genes take part in this process (Oliveira and Alves, 2011).…”

Section: Staturementioning

confidence: 93%

Pediatric endocrinology through syndromes

Tornese

Pellegrin

Barbi

et al. 2020

European Journal of Medical Genetics

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In everyday practice, a pediatric endocrinologist will face a variety of different endocrine issues (such as short or tall stature, dysthyroidism, abnormal pubertal timing or impaired glucose metabolism), which relevantly contribute to the global care of a number of syndromic conditions. On the other hand, the presence of endocrine features may assist in the diagnostic process, leading to final diagnosis of a syndromic disorder. The intention of this review is to provide a referenced overview of different genetic syndromes characterized by endocrine features, and to present a possible classification, based on whether the endocrinopathy or the syndrome is typically recognized first. Thus, the first part of the manuscript deals with the most common syndromes associated with endocrine dysfunctions, while the second part describes the conditions by which a syndrome is most frequently diagnosed after an endocrine finding. The aim is to provide a practical overview of the assessment of syndromic patients, so that they can be recognized and managed in an integrated, multidisciplinary fashion.

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O hormônio de crescimento na síndrome de Turner: dados e reflexões

Cited by 7 publications

References 63 publications

Growth Hormone Therapy in a Girl with Turner Syndrome – An Experience from Bangladesh

Growth Hormone Therapy in a Girl with Turner Syndrome – An Experience from Bangladesh

A Case of Premature Ovarian Failure in a 33-Year-Old Woman

Pediatric endocrinology through syndromes

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