Linear growth in patients with Turner syndrome: Influence of spontaneous puberty and parental height

Massa, Guy; Vanderschueren-Lodeweyckx, M; Malvaux, P

doi:10.1007/bf02106283

Cited by 104 publications

(71 citation statements)

References 14 publications

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“…We found that spontaneous postnatal growth was more strongly affected in patients with XrX, isoXq, or, to a lesser extent, 45,X karyotypes than in those with mosaicism or with a Y chromosome. These findings are consistent with some (11,21,22,23), but not all studies (27,28,29,35,36), and some studies have even reported conflicting findings (patients with 45,X taller than those of other karyotype subgroups) (35,36). Interestingly, this group of French TS patients was taller, by about 0.5 SDS on average, than the reference population of TS patients, providing evidence for an upward secular drift in spontaneous height (37).…”

Section: European Journal Of Endocrinologysupporting

confidence: 86%

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X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome

Fiot

Zénaty

Boizeau

et al. 2016

European Journal of Endocrinology

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Objective: Short stature is a key aspect of the phenotype of patients with Turner syndrome (TS). SHOX haploinsufficiency is responsible for about two-thirds of the height deficit. The aim was to investigate the effect of X-chromosome gene dosage on anthropometric parameters at birth, spontaneous height, and adult height (AH) after growth hormone (GH) treatment. Design: We conducted a national observational multicenter study. Methods: Birth parameter SDS for gestational age, height, and AH before and after GH treatment respectively, and height deficit with respect to target height (SDS) were classified by karyotype subgroup in a cohort of 1501 patients with TS: 45,X (36%), isoXq (19%), 45,X/46,XX (15%), XrX (7%), presence of Y (6%), or other karyotypes (17%). Results: Birth weight, length (P!0.0001), and head circumference (P!0.001), height and height deficit with respect to target height (SDS) before GH treatment, at a median age of 8.8 (5.3-11.8) years and after adjustment for age and correction for multiple testing (P!0.0001), and AH deficit with respect to target height at a median age of 19.3 (18.0-21.8) years and with additional adjustment for dose and duration of GH treatment (PZ0.006), were significantly associated with karyotype subgroup. Growth retardation tended to be more severe in patients with XrX, isoXq, and, to a lesser extent, 45,X karyotypes than in patients with 45,X/46,XX karyotypes or a Y chromosome. Conclusion: These data suggest that haploinsufficiency for an unknown Xp gene increases the risk of fetal and postnatal growth deficit and short AH with respect to target height after GH therapy.

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Section: European Journal Of Endocrinologysupporting

confidence: 86%

“…Some authors have reported more severe spontaneous growth deficits in patients with monosomy of the short arm of the X chromosome than in those with disomy (11,21,22,23,24,25,26). Others found no significant difference in height between several karyotype subgroups (27,28,29).…”

Section: Introductionmentioning

confidence: 99%

X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome

Fiot

Zénaty

Boizeau

et al. 2016

European Journal of Endocrinology

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“…Alguns autores apontam a baixa estatura como sendo o principal fator de impacto emocional e a origem de muitos dos problemas psicossociais encontrados na ST (15)(16)(17). A baixa estatura interfere de forma negativa na percepção de outras pessoas quanto à maturidade, popularidade e capacidade acadêmica, causando impacto no funcionamento psicológico e social e na auto-estima (18)(19)(20).…”

Section: Impacto Psicossocial Da Baixa Estaturaunclassified

“…É fato, porém, que a presença da baixa estatura pode aumentar os riscos de dificuldades psicológicas e sociais, uma vez que há uma tendência a se tratar a pessoa com baixa estatura como se tivesse a idade apropriada à altura -o que pode ser prejudicial ao seu desenvolvimen-to psicológico (15,20,25).…”

Section: Impacto Psicossocial Da Baixa Estaturaunclassified

Aspectos psicossociais da síndrome de Turner

Suzigan

Silva

Maciel‐Guerra

2005

Arq Bras Endocrinol Metab

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RESUMOA síndrome de Turner (ST) ocorre em aproximadamente 1:2.130 nativivos do sexo feminino e os sinais clínicos mais importantes são a baixa estatura e a disgenesia gonadal, levando a amenorréia primária, atraso no desenvolvimento puberal e esterilidade. Podem ser observadas, também, anomalias congênitas e adquiridas e uma grande variabilidade de sinais dismórficos. Assim, a presença de tantos sinais e sintomas, bem como a magnitude dos mesmos pode causar graves conseqüências no funcionamento psicológico e social das pacientes com ST. O objetivo deste artigo consiste numa revisão de literatura a respeito dos aspectos psicológicos da ST. As principais áreas abordadas são: impacto psicossocial da baixa estatura, do atraso no desenvolvimento puberal e da infertilidade, auto-estima, aspectos sociais, identidade de gênero, relacionamentos amorosos e funcionamento sexual, relações familiares, funcionamento cognitivo, doenças psiquiátricas e a presença de uma "doença crônica". Considerações gerais para o acompanhamento psicológico dessas pacientes também são discutidas. ABSTRACTTurner Syndrome: Psychosocial Aspects. Turner syndrome's (TS) incidence is about 1:2,130 live female births and its most important clinical features are short stature and gonadal dysgenesis, leading to primary amenorrehea, delayed pubertal development and infertility. Congenital and acquired anomalies and a great variety of dismorphic signs can also be observed. Thus, many characteristics and symptoms may have bad consequences in the psychosocial aspects of the patients with TS. The objective of this paper is to review the literature on psychosocial aspects of TS, mainly the psychological effect caused by short stature, delayed pubertal development and infertility, self-esteem, social aspects, gender identity, sexual functioning, love relationships, family relationships, cognitive functioning, psychiatric diseases and the presence of a "chronic disease". General remarks on psychological follow-up of the patients are also made.

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“…[6][7][8][9] Some authors regard short stature as the major factor for emotional impact and as the reason for many psychosocial problems. [10][11][12][13][14] Other authors believe that the association between short stature and delayed maturation is accountable for a significant proportion of these problems, 7,15 in addition to the interaction of several factors in the etiology of psychosocial problems associated with TS.…”

Section: Original Articlementioning

confidence: 99%

A percepção da doença em portadoras da síndrome de Turner

Suzigan¹,

Silva²,

Lemos-Marini³

et al. 2004

J. Pediatr. (Rio J.)

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Objective: To identify how patients with Turner syndrome perceive their condition.Methods: Thirty-six women with Turner syndrome, aged between 15 and 25 years and with over 2 years of medical follow-up, were individually interviewed about: the impact of Turner syndrome at the moment of the diagnosis, their understanding of the syndrome, its effect in their lives, and their expectations for the future.Results: Only 31% of the patients immediately understood the diagnosis. Their feelings associated to that moment were neutral (47%) or concerned (33%). About one third of the interviewed women were unable to explain the etiology of Turner syndrome (42%), did not relate their symptoms with Turner syndrome (36%), and/or believe there might be a cure for it (44%). Although most of the interviewed women affirm that the syndrome has no interference in their lives (67%) and that they consider themselves happy persons (78%), in more than half of the interviews there are evidences of difficulties in social interaction and love relationship, low self-esteem, dissatisfaction with their physical appearances, especially the short stature and infertility. Their hopes for the future refer mainly to study and have a job. Although being, on average, 19 years old, one in two women (53%) still hopes to grow up. Conclusion:Besides medical treatment, it is important that the knowledge of the patients about the syndrome and some issues as infertility, short stature, self-esteem and social interactions receive proper and continuous attention from the moment of the diagnosis. The ideal situation should be a joint-action of a psychologist and the medical team.J Pediatr (Rio J). 2004;80(4):309-14: Turner syndrome, sex chromosomes aberration, psychosocial aspects, patient s view, emotional impact.

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Linear growth in patients with Turner syndrome: Influence of spontaneous puberty and parental height

Cited by 104 publications

References 14 publications

X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome

X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome

Aspectos psicossociais da síndrome de Turner

A percepção da doença em portadoras da síndrome de Turner

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