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

2021 ◽  
Vol 10 (21) ◽  
pp. 5076
Author(s):  
Jakub Kasprzyk ◽  
Marcin Włodarczyk ◽  
Aleksandra Sobolewska-Włodarczyk ◽  
Katarzyna Wieczorek-Szukała ◽  
Renata Stawerska ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
X Chromosome ◽  
Growth Hormone Therapy ◽  
Marker Chromosome ◽  
Height Velocity ◽  
First Year ◽  
Rhgh Therapy ◽  
Different Types ◽  
Second Year

Short stature is characteristic for Turner syndrome (TS) patients, and particular karyotype abnormalities of the X chromosome may be associated with different responsiveness to recombinant human GH (rhGH) therapy. The aim of the study was to analyze the effect of different types of TS karyotype abnormalities on the response to rhGH therapy. A total of 57 prepubertal patients with TS treated with rhGH with a 3 year follow-up were enrolled in the study and categorized according to their karyotype as X monosomy (n = 35), isochromosome (n = 11), marker chromosome (n = 5), or X-mosaicism (n = 6). Height and height velocity (HV) were evaluated annually. In the first year, all groups responded well to the therapy. In the second year, HV deteriorated significantly in X-monosomy and isochromosome in comparison to the remaining two groups (p = 0.0007). After 3 years of therapy, all patients improved the score in comparison to their target height, but better outcomes were achieved in patients with marker chromosome and X-mosaicism (p = 0.0072). X-monosomy or isochromosome determined a poorer response during the second and third year of rhGH therapy. The results of the study indicate that the effects of rhGH therapy in patients with TS may depend on the type of TS karyotype causing the syndrome.

Growth hormone therapy in achondroplasia

1993 ◽  
Vol 128 (5) ◽  
pp. 394-396 ◽  
Author(s):  
Yoshikazu Nishi ◽  
Michi Kajiyama ◽  
Shinichiro Miyagawa ◽  
Mitsuhiro Fujiwara ◽  
Kazuko Hamamoto
Keyword(s):  
Growth Hormone ◽  
Hormone Therapy ◽  
Growth Hormone Therapy ◽  
Height Velocity ◽  
First Year ◽  
Gh Therapy ◽  
Gh Treatment ◽  
Gh Secretion ◽  
The Status ◽  
Second Year

The status of growth hormone (GH) secretion together with the effect of GH therapy was studied in six children with achondroplasia. One patient had impaired GH secretion, which may, in part, be due to obesity. The pre-GH-treatment height velocity was 3.8±0.7 cm/year, but this increased to 6.0±1.0 cm/year in the first year of treatment and to 4.4±0.6 cm/year in the second year. One patient who underwent GH therapy for 4 years showed good response in height velocity. A considerable variation was observed in response to GH therapy within the treated cases.

scholarly journals The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Seyedetahere Mousavi ◽  
Batool Amiri ◽  
Saidee Beigi ◽  
Mohammadreza Farzaneh
Keyword(s):  
Case Report ◽  
Standard Deviation ◽  
Physical Examination ◽  
Turner Syndrome ◽  
X Chromosome ◽  
Genetic Disorder ◽  
Diagnostic Errors ◽  
Height Velocity ◽  
Target Height ◽  
Simple Method

Abstract Introduction Turner syndrome is a genetic disorder in females and is the result of complete or partial loss of an X chromosome during fertilization. The missing X chromosome is originally either from the mother's ovum or the father's sperm cell. Approximately 45% of patients have the 45,X karyotype and the rest have other variants of Turner syndrome, which are either mosaicism patterns or structural abnormalities of the X chromosome. Here, we report a case of Turner syndrome that is the fifth case of Turner syndrome with balanced Robertsonian translocation of (13;14)(q10;q10), and the sixth case with 44,X chromosomes, reported in the literature thus far. Case presentation A 10.3-year-old Persian girl was brought to our clinic by her parents, with the complaint of failure to thrive and short height. She had been examined and investigated by endocrinologists since the age of 4 years, but no definite diagnosis was made. At the time of presentation, she had been through three provocative growth hormone tests and had been on no medications for about a year. Her physical examination revealed mild retrognathia and micrognathia. Initially, she was started on somatropin treatment which, after 12 months, did not appropriately improve her height velocity. Therefore, a more thorough physical examination was performed, in which high arched palate and low posterior hairline were observed. There was also a difference between target height and patient height standard deviation scores. Karyotype study was requested, and Turner syndrome was confirmed. Conclusion The diagnosis of this case was not straightforward, both because the somatic presentations were not obvious, and because the physicians had not looked for them when performing the physical examinations. This case report introduces a rare 44,X chromosome karyotype of Turner syndrome and highlights the value in using the difference between target height and patient height standard deviation scores as a simple and inexpensive tool for diagnosis of this syndrome.

REPLACEMENT ORAL ETHINYLOESTRADIOL THERAPY FOR GONADAL DYSGENESIS: GROWTH AND ADRENAL ANDROGEN STUDIES

1979 ◽  
Vol 91 (3) ◽  
pp. 519-528 ◽  
Author(s):  
Anne W. Lucky ◽  
Samuel P. Marynick ◽  
Robert W. Rebar ◽  
Gordon B. Cutler ◽  
Michael Glen ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Bone Age ◽  
Pubic Hair ◽  
Height Velocity ◽  
First Year ◽  
Adrenal Androgen ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Second Year ◽  
Pre Treatment

ABSTRACT We have studied growth and adrenal dehydroepiandrosterone (DHA) responses to iv synthetic adrenocorticotrophic hormone (ACTH, Cortrosyn) in 6 girls with gonadal dysgenesis before and during treatment with lowdose ethinyloestradiol (EOe2). In all patients there was a statisfactory induction of secondary sexual characteristics including increase in breasts and pubic hair and onset of withdrawal bleeding within 6 months of therapy. Height velocity increased from 2.8 ± 0.9 cm/year pre-treatment to 5.3 ± 1.5 cm/year (P < 0.02) in the first year. There was deceleration to 1.9 ± 1.1 cm/year in the second year. There was no disproportionate advancement in bone age and thus, presumably, no loss of ultimate height. We could demonstrate no change in basal or ACTH-stimulated levels of DHA, a specific adrenal androgen, to account for the increased pubic hair and growth in these patients.

scholarly journals Growth hormone therapy in pre-pubertal children with Noonan syndrome: first year growth response and comparison with Turner syndrome

1997 ◽  
Vol 86 (9) ◽  
pp. 943-946 ◽  
Author(s):  
J De Schepper ◽  
BJ Otten ◽  
I François ◽  
J-P Bourguignon ◽  
M Craen ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Hormone Therapy ◽  
Turner Syndrome ◽  
Noonan Syndrome ◽  
Growth Response ◽  
Growth Hormone Therapy ◽  
First Year

Parameters affecting postoperative success of surgery for stage 4A/4B ROP

2019 ◽  
Vol 103 (11) ◽  
pp. 1624-1632
Author(s):  
Cemal Özsaygili ◽  
Sengul Ozdek ◽  
Mehmet Cuneyt Ozmen ◽  
Hatice Tuba Atalay ◽  
Duygu Yalinbas Yeter
Keyword(s):  
Functional Results ◽  
First Year ◽  
Preoperative Treatment ◽  
Posterior Hyaloid ◽  
Retinal Tear ◽  
Stage 4 ◽  
The Mean ◽  
Second Year ◽  
Surgically Induced

PurposeTo describe the long-term anatomical and functional results of surgery for retinal detachment (RD) associated with stage 4 retinopathy of prematurity (ROP) and patient and surgery-related factors affecting postoperative success.DesignRetrospective case series at a single tertiary referral paediatric vitreoretinal practice.MethodsOne hundred and twenty-one eyes of 82 infants (40 female/42 male) who underwent lens-sparing vitrectomy (LSV) or lensectomy with vitrectomy surgery for stage 4A and 4B ROP at Gazi University Department of Ophthalmology between 2011 and 2016 were enrolled in this study. Patient characteristics including gestational age, birth weight, gender, stage of ROP at presentation, preoperative treatment (laser, anti-vascular endothelial growth factor (VEGF) or combined), anatomical and functional outcome and complications were recorded. The effect of birth weight, gestational age, presence of plus disease, preoperative treatment status, surgically induced posterior hyaloid detachment, postoperative vitreous haemorrhage and iatrogenic retinal tear formation on anatomical and functional results was evaluated.Results61.2% of the eyes were stage 4A and 38.8% were stage 4B ROP. The mean follow-up was 24.5 months. 18.2% of the eyes had no preoperative treatment. Anatomical success was 86.5% for stage 4A and 68.1% for stage 4B at the first year, 91.7% for stage 4A and 69.4% for stage 4B at the second year, and 95.8% for stage 4A and 57.9% for stage 4B at the third year. Functional success was 85.1% for stage 4A and 65.9% for stage 4B at the first year, 89.6% for stage 4A and 61.1% for stage 4B at the second year, and 87.5% for stage 4A and 57.8% for stage 4B at the third year. The mean visual acuity was 1.12±0.34 logarithm of the minimum angle of resolution (logMAR) for stage 4A and 1.34±0.32 logMAR at the 3-year follow-up duration (p>0.05). There was preoperative plus disease in 59.5% of the eyes. Subsequent retinal surgeries were required in 17.4% of the eyes. Presence of plus disease and absence of preoperative treatment, iatrogenic retinal tear formation and postoperative vitreous haemorrhage were found to have significant negative effects, while surgical induction of posterior hyaloid detachment and sparing the lens intraoperatively affected the anatomical and functional results positively.ConclusionsSurgery for stage 4 ROP-associated RD resulted in encouraging anatomical and functional outcomes and the results are even better in eyes with preoperative (laser/anti-VEGF) treatment, LSV and surgically induced posterior hyaloid detachment.

scholarly journals INTRODUCTING A NEW ENGINEERING COURSE: A LEARNING EXPERIENCE FOR STUDENTS AND FACULTY

2011 ◽  
Author(s):  
Peter Dare ◽  
Brian Cooke
Keyword(s):  
Engineering Students ◽  
Task Force ◽  
Learning Experience ◽  
First Year ◽  
Design Element ◽  
Design Project ◽  
Different Types ◽  
Second Year ◽  
The University ◽  
First Time

A Task Force was created by the Faculty of Engineering at the University of New Brunswick in September 2004 charged with creating a new course for all first year engineering students to be delivered for the first time in September 2005. The course, to be taken by approximately 270 students, was to integrate material from other first year courses, introduce the students to working in teams, contain a substantial design element through a design project, and introduce communication skills. Nine professors from throughout engineering “volunteered” to help develop and deliver the course. In this paper we own up to what we did wrong during the first two years of delivery of this course, and (naturally!) counter this by celebrating our successes. Students are assessed based on a combination of individual and team submissions, with some submissions being oral and others written. This paper will outline the complex assessment scheme we initially used, and how we later simplified it. Rubrics were used to evaluate many of the course assignments. For most of the instructors, this was the first time they had used rubrics and so it was a learning experience to both develop and apply them. We show how we adapted their use in the second year of delivery after the experiences of the first year. We were pleased with the way that the assessments were mostly built around the design project – this helped the students grasp why clear communication is vital and enabled them to obtain continual feedback on the project. We were also delighted that an element of social responsibility was introduced into the course by making the project an international “Engineers Without Borders” project based in Africa. We believe this added an additional dimension to the course and especially the project. The professor-delivered skits were especially popular! Delivered by two wannabe actors, they introduced the students in a humorous manner to the different types of engineering that are taught at UNB. Engineering students at UNB have to commit to their specific engineering field from their first day at UNB, so these skits were included to ensure the students were exposed to all the UNB engineering disciplines. We conclude the paper with our plans for delivery of the course in September 2007 and beyond.

scholarly journals Adult height in girls with Turner syndrome treated from before 6 years of age with a fixed per kilogram GH dose

2013 ◽  
Vol 169 (4) ◽  
pp. 439-443 ◽  
Author(s):  
Malgorzata Wasniewska ◽  
Tommaso Aversa ◽  
Laura Mazzanti ◽  
Maria Pia Guarneri ◽  
Patrizia Matarazzo ◽  
...  
Keyword(s):  
Prospective Study ◽  
Turner Syndrome ◽  
Adult Height ◽  
Chromosomal Abnormalities ◽  
Height Velocity ◽  
First Year ◽  
Bone Maturation ◽  
Significant Growth ◽  
Pretreatment Assessment ◽  
Initial Acceleration

ObjectiveTo evaluate adult height (AH) in 25 girls with Turner syndrome (TS) who were treated from before 6 years of age for 10.0±1.7 years with a fixed GH dose of 0.33 mg/kg per week.Patients and designAfter a 6-month pretreatment assessment all patients were measured 6-monthly under therapy to assess height SDS (H-SDS) and height velocity (HV) until AH achievement.ResultsFollowing initial acceleration, HV declined after the first 4 years of therapy. At the end of the sixth year of therapy, H-SDS gain was 1.9±1.1. Thereafter, H-SDS gain from baseline decreased, becoming 0.9±0.9 SDS at AH achievement. Bone maturation velocity did not significantly change throughout the prepubertal period. According to Lyon standards for TS, mean AH SDS was significantly higher than pretreatment H-SDS (P<0.0001), with a mean H-SDS change of 0.9±0.9. However, the prevalence of patients with AH <−2 SDS (according to Sempé standards) was close to those recorded at the start of therapy (16/25 vs 18/25). No significant differences in terms of AH were found between patients with either X monosomy or X-chromosomal abnormalities and between girls with either spontaneous or induced puberty.ConclusionsWe infer that the therapeutic regimen adopted in this prospective study is sufficient to induce a significant growth acceleration during the first year, but the response waned after 6 years of treatment.

scholarly journals Final Height in Girls with Turner Syndrome after Long-Term Growth Hormone Treatment in Three Dosages and Low Dose Estrogens

2003 ◽  
Vol 88 (3) ◽  
pp. 1119-1125 ◽  
Author(s):  
Yvonne K. van Pareren ◽  
Sabine M. P. F. de Muinck Keizer-Schrama ◽  
Theo Stijnen ◽  
Theo C. J. Sas ◽  
Maarten Jansen ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Low Dose ◽  
Final Height ◽  
Height Velocity ◽  
Chronological Age ◽  
First Year ◽  
Bone Maturation ◽  
Gh Treatment ◽  
Group A ◽  
Group B

Although GH treatment for short stature in Turner syndrome is an accepted treatment in many countries, which GH dosage to use and which age to start puberty induction are issues of debate. This study shows final height (FH) in 60 girls with Turner syndrome treated in a randomized dose-response trial, combining GH treatment with low dose estrogens at a relatively young age. Girls were randomly assigned to group A (4 IU/m2·d; ∼0.045 mg/kg/d), group B (first year, 4 IU/m2·d; thereafter 6 IU/m2·d), or group C (first year, 4 IU/m2·d; second year, 6 IU/m2·d; thereafter, 8 IU/m2·d). After a minimum of 4 yr of GH treatment, at a mean age of 12.7 ± 0.7 yr, low dose micronized 17β-estradiol was given orally. After a mean duration of GH treatment of 8.6 ± 1.9 yr, FH was reached at a mean age of 15.8 ± 0.9 yr. FH, expressed in centimeters or sd score, was 157.6 ± 6.5 or −1.6 ± 1.0 in group A, 162.9 ± 6.1 or −0.7 ± 1.0 in group B, and 163.6 ± 6.0 or −0.6 ± 1.0 in group C. The difference in FH in centimeters, corrected for height sd score and age at start of treatment, was significant between groups A and B [regression coefficient, 4.1; 95% confidence interval (CI), 1.4, 6.9; P &lt; 0.01], and groups A and C (coefficient, 5.0; 95% CI, 2.3, 7.7; P &lt; 0.001), but not between groups B and C (coefficient, 0.9; 95% CI, −1.8, 3.6). Fifty of the 60 girls (83%) had reached a normal FH (FH sd score, more than −2). After starting estrogen treatment, the decrease in height velocity (HV) changed significantly to a stable HV, without affecting bone maturation (change in bone age/change in chronological age). The following variables contributed significantly to predicting FH sd score: GH dose, height sd score (ref. normal girls), chronological age at start of treatment, and HV in the first year of GH treatment. GH treatment was well tolerated. In conclusion, GH treatment leads to a normalization of FH in most girls, even when puberty is induced at a normal pubertal age. The optimal GH dosage depends on height and age at the start of treatment and first year HV.

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