Growth and growth hormone in Turner syndrome: Looking back, looking ahead

Los, Evan; Rosenfeld, Ron G.

doi:10.1002/ajmg.c.31680

Cited by 17 publications

(5 citation statements)

References 41 publications

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“…The cause is partly due to SHOX (short stature homeobox) gene haploinsufficiency, which explains some of the skeletal anomalies and some of the reduced height (1,47,48). Growth hormone (GH) is a well-established approved therapy for growth failure in girls who have Turner syndrome (1,49). To enable a longer period of therapy, it is recommended to start GH early, ideally at 4-6 years of age, which requires early testing and is not possible when diagnosis is delayed.…”

Section: Staturementioning

confidence: 99%

Individuals with numerical and structural variations of sex chromosomes: interdisciplinary management with focus on fertility potential

et al. 2023

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Diagnosis and management of individuals who have differences of sex development (DSD) due to numerical or structural variations of sex chromosomes (NSVSC) remains challenging. Girls who have Turner syndrome (45X) may present with varying phenotypic features, from classical/severe to minor, and some remain undiagnosed. Boys and girls who have 45,X/46,XY chromosomal mosaicism may have Turner syndrome-like features and short stature; therefore, unexplained short stature during childhood requires karyotype analysis in both sexes, particularly if characteristic features or atypical genitalia are present. Many individuals with Klinefelter syndrome (47XXY) remain undiagnosed or are only diagnosed as adults due to fertility problems. Newborn screening by heel prick tests could potentially identify sex chromosome variations but would have ethical and financial implications, and in-depth cost-benefit analyses are needed before nationwide screening can be introduced. Most individuals who have NSVSC have lifelong co-morbidities and healthcare should be holistic, personalized and centralized, with a focus on information, psychosocial support and shared decision-making. Fertility potential should be assessed individually and discussed at an appropriate age. Oocyte or ovarian tissue cryopreservation is possible in some women who have Turner syndrome and live births have been reported following assisted reproductive technology (ART). Testicular sperm cell extraction (TESE) is possible in some men who have 45,X/46,XY mosaicism, but there is no established protocol and no reported fathering of children. Some men with Klinefelter syndrome can now father a child following TESE and ART, with multiple reports of healthy live births. Children who have NSVSC, their parents and DSD team members need to address possibilities and ethical questions relating to potential fertility preservation, with guidelines and international studies still needed.

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Section: Staturementioning

confidence: 99%

Individuals with numerical and structural variations of sex chromosomes: interdisciplinary management with focus on fertility potential

et al. 2023

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“…Treatment of short stature with rhGH is considered to be safe and effective in TS [7]. Although there are only 2 randomized controlled studies evaluating adult height in patients with TS with and without rhGH treatment, many clinical trials are available, suggesting a mean height gain of 5-8 cm after rhGH (Table 2) [3].…”

Section: Discussionmentioning

confidence: 99%

“…Since the 1980s, when recombinant human growth hormone (rhGH) became available [7], many clinical trials showed a mean height gain of 5-8 cm in patients with TS after rhGH treatment, leading to the approval of this treatment in many countries. However, most studies did not have an untreated/placebo control group, basing these results on baseline-predicted adult height or on the comparison with historical controls [3].…”

Section: Introductionmentioning

confidence: 99%

Adult Height in 299 Patients with Turner Syndrome with or without Growth Hormone Therapy: Results and Literature Review

et al. 2021

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Context: Treatment with growth hormone (GH) is considered effective in improving adult height (AH) in Turner syndrome (TS). However, there are few studies comparing AH between treated patients and a concurrent untreated group. Objective: To assess the efficacy of GH treatment in improving AH in TS and to review previous published studies with treated and untreated groups. Participants and Methods: We retrospectively analyzed clinical data and AH of a large cohort of GH-treated (n = 168) and untreated (n = 131) patients with TS. Data are shown as median and interquartile range (IQR). We assessed pretreatment variables related with AH and compared our results with 16 studies that also included an untreated group. Results: The GH-treated group was 6.2 cm taller than the untreated group (AH = 149 cm [IQR 144.5–152.5 cm] vs. 142.8 cm [IQR 139–148 cm], p < 0.001) after 4.9 years of GH treatment with a dose of 0.35 mg/kg/week. AH SDS corrected for target height (TH) was 7.2 cm higher in GH-treated patients. AH SDS ≥−2 was more frequent in GH-treated patients (43%) than in untreated patients (16%, p < 0.001). AH SDS was also more frequently within the TH range in the GH-treated group (52%) than in the untreated group (15%, p < 0.001). Height SDS at start of GH therapy and TH SDS were positively correlated with AH (p < 0.001; R2 = 0.375). Considering the current result together with previous similar publications, a mean AH gain of 5.7 cm was observed in GH-treated (n = 696) versus untreated (n = 633) patients. Conclusions: Our study strengthens the evidence for efficacy of GH therapy in patients with TS from different populations.

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“…Short stature, which affects 98% of patients, is the most prevalent symptom [ 98 ]. Between 95% and 100% of TS patients experience growth failure and shorter adult height [ 99 ].…”

Section: Effects Of the Flghr And D3ghr Isoforms On Various Growth Di...mentioning

confidence: 99%

The Exon 3-Deleted Growth Hormone Receptor (d3GHR) Polymorphism—A Favorable Backdoor Mechanism for the GHR Function

Falah,

Sharvit,

Atzmon

2023

IJMS

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Growth hormone (GH) is a peptide hormone that plays a crucial role in controlling growth, development, and lifespan. Molecular regulation of GH is accomplished via the GH receptor (GHR), which is the main factor influencing human development and is essential to optimal functioning of the GH/IGF-I axis. Two GHR isoforms have been studied, according to the presence (flGHR) or absence (d3GHR) of exon 3. The d3GHR isoform, which lacks exon 3 has recently been related to longevity; individuals carrying this isoform have higher receptor activity, improved signal transduction, and alterations in the treatment response and efficacy compared with those carrying the wild type (WT) isoform (flGHR). Further, studies performed in patients with acromegaly, Prader–Willi syndrome, Turner syndrome, small for gestational age (SGA), and growth hormone deficiency (GHD) suggested that the d3GHR isoform may have an impact on the relationship between GH and IGF-I levels, height, weight, BMI, and other variables. Other research, however, revealed inconsistent results, which might have been caused by confounding factors, including limited sample sizes and different experimental methods. In this review, we lay out the complexity of the GHR isoforms and provide an overview of the major pharmacogenetic research conducted on this ongoing and unresolved subject.

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Growth and growth hormone in Turner syndrome: Looking back, looking ahead

Cited by 17 publications

References 41 publications

Individuals with numerical and structural variations of sex chromosomes: interdisciplinary management with focus on fertility potential

Individuals with numerical and structural variations of sex chromosomes: interdisciplinary management with focus on fertility potential

Adult Height in 299 Patients with Turner Syndrome with or without Growth Hormone Therapy: Results and Literature Review

The Exon 3-Deleted Growth Hormone Receptor (d3GHR) Polymorphism—A Favorable Backdoor Mechanism for the GHR Function

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