Karyotype Abnormalities in the X Chromosome Predict Response to the Growth Hormone Therapy in Turner Syndrome

Kasprzyk, J.; Włodarczyk, Marcin; Sobolewska-Włodarczyk, Aleksandra; Wieczorek-Szukała, Katarzyna; Stawerska, Renata; Hilczer, Maciej; Lewiński, Andrzej

doi:10.3390/jcm10215076

Cited by 3 publications

(1 citation statement)

References 23 publications

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“…Interestingly, five-year therapy with rHGH was unsatisfactory. Kasprzyk et al, in their study including 57 prepubertal patients, proved that responsiveness to rHGH therapy in patients with Turner syndrome depended on the type of karyotype abnormalities causing the syndrome (14) . There are some reports showing beneficial effects of rHGH treatment in patients with SHOX haploinsufficiency, but its effectiveness seems to be related to the mutation type (7,15) .…”

Section: Discussionmentioning

confidence: 99%

Unique coexistence of SHOX and PTHLH gene mutations in a 12-year-old boy with syndromic short stature. Case report with literature review

Sobieszczańska-Droździel,

Wojciechowska

2023

Pediatr Med Rodz

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Despite the availability of advanced genetic testing that enables accurate and reliable genotype assessment, clinicians continue to face diagnostic problems, especially in patients with potentially pathogenic mutations in different genes. SHOX gene mutations are the most common cause of proportional monogenic short stature, whereas the PTHLH gene encodes a parathormone-related protein that plays a crucial role in the regulation of cell growth, calcium ion transport, and bone development. The authors present the case of a 12-year-old boy with a short stature and a mosaic of developmental malformations; nephrocalcinosis; and calcium and magnesium metabolism disorders; with a unique coexistence of mutations in the SHOX and PTHLH genes. The presented case extends the clinical spectrum associated with these rare mutations and shows the usefulness of whole exome sequencing in diagnosing patients with atypical phenotypes.

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Section: Discussionmentioning

confidence: 99%

Unique coexistence of SHOX and PTHLH gene mutations in a 12-year-old boy with syndromic short stature. Case report with literature review

Sobieszczańska-Droździel,

Wojciechowska

2023

Pediatr Med Rodz

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Approach to the Patient: Diagnosis and Treatment With Growth Hormone of Turner Syndrome and Its Variants

Zhou,

Qiang,

Hao

et al. 2024

The Journal of Clinical Endocrinology &Amp; Metabolism

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Context Turner syndrome (TS) is characterized by a partial or complete absence of the second X chromosome in female. Here, patients with Xp deletion involving SHOX haploinsufficiency caused by unbalanced X-autosome translocations were discussed and considered as TS variants. Objective This work aimed to expand the current knowledge of TS and unbalanced X-autosome translocations and to suggest the definition, clinical characteristics, diagnosis workflow and growth hormone (GH) treatment strategy of TS and its variants. Methods A 9.0-year-old patient of TS variant with tall target height (+2.03SD) but low height velocity (3.6cm/y) and height (-1.33SD) was evaluated as an example. Patients similar to the index patient were systematically searched in MEDLINE and EMBASE and summarized. A diagnosis workflow and scores for risk assessment of GH treatment (RiGHT scores) for TS variants were also proposed in this study. Results According to the diagnosis workflow, the girl’s karyotype was confirmed as 46,X,der(X)t(X;7)(p11.3; p14.1), and was evaluated as low risk using RiGHT scores. After 2-year GH treatment, she had a significantly increased height (-0.94SD). Moreover, a total of 13 patients from 10 studies were summarized, characterized as short stature, growth retardation, craniofacial abnormalities, disorders of intellectual development, and psychomotor delays. Risk assessment of GH treatment using RiGHT scores were also applied in these 13 patients. Conclusion The patients with Xp deletion caused by unbalanced X-autosome translocations should be considered as TS variants. The diagnosis workflow and RiGHT scores is a useful approach for clinicians in addressing complex cases of TS variants with GH treatment in clinical practice.

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Response of children with Turner syndrome with different types of karyotype abnormalities to growth hormone treatment

Choi,

Park,

et al. 2024

Ann Pediatr Endocrinol Metab

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Purpose: Short stature is the main characteristic of Turner syndrome (TS) patients and growth hormone (GH) therapy has been essential for achieving the final adult height (Ht). In the present study, the response of TS patients with different types of karyotype abnormalities to GH therapy was analyzed.Methods: The clinical parameters of 194 TS patients registered in the LG Growth Study were retrospectively reviewed. Data for 4 groups of subjects were obtained as follows: monosomy X (n=56); X structural abnormality (n=26); X mosaicism without structural abnormality (n=41); X mosaicism with structural abnormality (n=71). Clinical characteristics and growth response parameters were compared over 3 years of GH treatment.Results: The baseline Ht standard deviation score (SDS) of all patients was -2.85±0.86. The baseline Ht SDS, body mass index SDS, and chronological age (years)-bone age (years) were significantly different based on chromosomal abnormalities. The growth velocity (GV; cm/yr) in the first year was the highest and significantly different among the groups. The GV in the second year also showed an increase in the X mosaicism without structural abnormality group compared with the monosomy X group. The change in Ht SDS (ΔHt SDS) over 3 years was not statistically different between karyotypes.Conclusion: The response to 3 years of GH therapy did not differ based on the karyotype of TS patients although the initial Ht SDS was the lowest in the monosomy X group.

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Karyotype Abnormalities in the X Chromosome Predict Response to the Growth Hormone Therapy in Turner Syndrome

Cited by 3 publications

References 23 publications

Unique coexistence of SHOX and PTHLH gene mutations in a 12-year-old boy with syndromic short stature. Case report with literature review

Unique coexistence of SHOX and PTHLH gene mutations in a 12-year-old boy with syndromic short stature. Case report with literature review

Approach to the Patient: Diagnosis and Treatment With Growth Hormone of Turner Syndrome and Its Variants

Response of children with Turner syndrome with different types of karyotype abnormalities to growth hormone treatment

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