Growth failure and diabetes in cystic fibrosis: have you considered Turner syndrome?

Steppberger, K.; Schuster,; Kieß, Wieland

doi:10.1111/j.1651-2227.2003.tb02587.x

Cited by 3 publications

(3 citation statements)

References 2 publications

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“…Two women with CF and Turner syndrome have been reported in the literature. Both women were diagnosed with CF in infancy and Turner syndrome in their teenage years as part of an evaluation for short stature [34]. Klinefelter syndrome (karyotype 47,XXY or XY/XXY mosaicism) occurs in approximately 1 in 1000 live male births and causes primary gonadal failure along with tall stature and sometimes behavioral problems and learning difficulties.…”

Section: Delayed Pubertymentioning

confidence: 99%

Puberty in cystic fibrosis

Goldsweig

Kaminski

Sidhaye

et al. 2019

Journal of Cystic Fibrosis

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Historically, delayed puberty was considered a common clinical feature of cystic fibrosis (CF). More recent reports have documented normal pubertal progression in the majority of individuals with CF. However, youth with more severe disease are still at risk for delayed puberty. Careful evaluation of pubertal development in children and adolescents with CF is important as pubertal timing impacts linear growth, bone mineral accrual, body image and psychosocial wellbeing, all of which can also be impacted directly by CF. This article reviews the physiology of puberty, timing of puberty in CF, evaluation of pubertal development, and the differential diagnosis, evaluation, and management of delayed and precocious puberty in people with CF.

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Section: Delayed Pubertymentioning

confidence: 99%

Puberty in cystic fibrosis

Goldsweig

Kaminski

Sidhaye

et al. 2019

Journal of Cystic Fibrosis

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“…To our knowledge, this is the first pediatric report and third report of a female with CF and Turner Syndrome. The first two reports [ 8 ] were of two women in Germany with CF, diabetes and growth retardation. Unlike prior reports, our patient did not have CF-related diabetes and is Hispanic.…”

Section: Discussionmentioning

confidence: 99%

Case report of a Hispanic female with cystic fibrosis and short stature

Daley

Fadoju

2022

Respiratory Medicine Case Reports

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“…Clinical manifestations can be grouped according to their occurrence during the life span: intrauterine growth retardation (IUGR) and low birth weight are frequent [1]. In the neonatal period meconium ileus, prolaps of the rectum and bowel obstruction can occur.…”

mentioning

confidence: 99%