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Gunter K Stalla - One of the best experts on this subject based on the ideXlab platform.
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rare missense p450c17 cyp17a1 mutation in exon 1 as a cause of 46 xy disorder of sexual Development implications of Breast tissue unresponsiveness despite adequate estradiol substitution
Sexual Development, 2013Co-Authors: A P Athanasoulia, Matthias K Auer, F G Riepe, Gunter K StallaAbstract:17-Alpha-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive disorder resulting from mutations in the CYP17A1 gene, leading to impaired adrenal and gonadal steroidogenesis. We report for the first time a patient with a missense mutation at codon 96 (R96Q) of the CYP17A1 gene causing a 46,XY disorder of sexual Development (DSD) that additionally showed lack of Breast Development despite highly dosed estradiol replacement treatment. This phenomenon could be attributed to irreversible Breast tissue alterations following high serum progesterone levels.
Guy Tsjoen - One of the best experts on this subject based on the ideXlab platform.
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Breast Development in transwomen after 1 year of cross sex hormone therapy results of a prospective multicenter study
The Journal of Clinical Endocrinology and Metabolism, 2017Co-Authors: Christel J M De Blok, Guy Tsjoen, Maartje Klaver, Chantal M Wiepjes, Nienke M Nota, Annemieke C Heijboer, Alessandra D Fisher, Thomas Schreiner, Martin Den HeijerAbstract:Context: Breast Development is a key feature of feminization and therefore important to transwomen (male-to-female transgender persons). However, it is not exactly known when Breast Development starts after initiating cross-sex hormone therapy (CHT) and how much growth may be expected of CHT alone. Objective: To investigate Breast Development in centimeters and bra cup-sizes in transwomen during their first year of CHT, and whether clinical or laboratory parameters predict the Breast Development. Design: This study was performed as part of the European Network for the Investigation of Gender Incongruence (ENIGI), which is a prospective multicenter cohort study. Setting: Specialized gender clinics in Amsterdam, Ghent, and Florence. Participants: All transwomen who completed the first year of CHT (n=229) were eligible for analyses. Intervention: Cross-sex hormone therapy. Main outcome measures: Breast Development in centimeter and cup-size. Results: The median age of the included transwomen was 28 years (range 18;69 years). Mean Breast - chest difference increased from 4.1±2.9cm at baseline to 7.9±3.1cm after one year of CHT, mainly resulting in less than an AAA cup-size (48.7%). Main Breast Development occurred in the first six months of therapy. Serum estradiol levels did not predict Breast Development after one year CHT (first quartile: +3.6cm(95% CI +2.7;+4.5cm), second quartile: +3.2cm(95% CI +2.3;+4.2cm), third quartile: +4.4(95% CI +3.5;+5.3cm), fourth quartile: +3.6cm(95% CI +2.7;+4.5cm)). Conclusion: This study shows that after one year of CHT Breast Development is modest and occurs primarily in the first six months. No clinical or laboratory parameters were found that predict Breast Development.
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clinical review Breast Development in trans women receiving cross sex hormones
The Journal of Sexual Medicine, 2014Co-Authors: Katrien Wierckx, L J G Gooren, Guy TsjoenAbstract:Abstract Introduction In trans women (male-to-female transsexual persons), cross-sex hormone therapy is administered to induce feminization. Breast Development is an important part of feminization for most trans women. Aim The aim of this study is to assess the effect of cross-sex hormone therapy on Breast Development in adult trans women. Additionally, we aimed to investigate the benefit or harm of administration of progestogens on Breast Development. Methods A review of the literature in Embase, Medline, The Cochrane Library, PsycINFO databases, PubMed, and Web of Knowledge until January 2014. Main Outcome Measures Effects of cross-sex hormone therapy and progestogens on Breast Development in trans women. Results Only few studies with low quality of evidence addressed these topics. The available evidence suggests that Breast Development is insufficient for the majority of trans women and that type and dosage of hormonal therapy seem not to have an important role on final Breast size. Conclusions Our knowledge concerning the natural history and effects of different cross-sex hormone therapies on Breast Development in trans women is extremely sparse and based on low quality of evidence. Current evidence does not provide evidence that progestogens enhance Breast Development in trans women. Neither do they prove the absence of such an effect. This prevents us from drawing any firm conclusion at this moment and demonstrates the need for further research to clarify these important clinical questions. Wierckx K, Gooren L, and T'Sjoen G. Clinical review: Breast Development in trans women receiving cross-sex hormones. J Sex Med 2014;11:1240–1247.
Sabine M P F De Muinck Keizerschrama - One of the best experts on this subject based on the ideXlab platform.
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safety and efficacy of oxandrolone in growth hormone treated girls with turner syndrome evidence from recent studies and recommendations for use
Hormone Research in Paediatrics, 2014Co-Authors: Theo C J Sas, K Freriks, Barto J Otten, Sabine M P F De Muinck Keizerschrama, Emma Jane Gault, Zeger M Bardsley, Leonie A Menke, Rebecca J Perry, H Timmers, J M WitAbstract:There has been no consensus regarding the efficacy and safety of oxandrolone (Ox) in addition to growth hormone (GH) in girls with Turner syndrome (TS), the optimal age of starting this treatment, or the optimal dose. This collaborative venture between Dutch, UK and US centers is intended to give a summary of the data from three recently published randomized, placebo-controlled, double-blind studies on the effects of Ox. The published papers from these studies were reviewed within the group of authors to reach consensus about the recommendations. The addition of Ox to GH treatment leads to an increase in adult height, on average 2.3-4.6 cm. If Ox dosages <0.06 mg/kg/day are used, side effects are modest. The most relevant safety concerns are virilization (including clitoromegaly and voice deepening) and a transient delay of Breast Development. We advise monitoring signs of virilization Breast Development and possibly blood lipids during Ox treatment, in addition to regular follow-up assessments for TS. In girls with TS who are severely short for age, in whom very short adult stature is anticipated, or in whom the growth rate is modest despite good compliance with GH, adjunctive treatment with Ox at a dosage of 0.03-0.05 mg/kg/day starting from the age of 8-10 years onwards can be considered.
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long term effects of previous oxandrolone treatment in adult women with turner syndrome
European Journal of Endocrinology, 2012Co-Authors: K Freriks, Theo C J Sas, Maaike A F Traas, Romana T Neteamaier, Martin Den Heijer, Ad R M M Hermus, Jan Maarten Wit, Janielle A E M Van Alfenvan Der Velden, Barto J Otten, Sabine M P F De Muinck KeizerschramaAbstract:Objective: Short stature is a prominent feature of Turner syndrome (TS), which is partially overcome by GH treatment. We have previously reported the results of a trial on the effect of oxandrolone (Ox) in girls with TS. Ox in a dose of 0.03 mg/kg per day (Ox 0.03) significantly increased adult height gain, whereas Ox mg/kg per day (0.06) did not, at the cost of deceleration of Breast Development and mild virilization. The aim of this follow-up study in adult participants of the pediatric trial was to investigate the long-term effects of previous Ox treatment. Design and methods: During the previous randomized controlled trial, 133 girls were treated with GH combined with placebo (Pl), Ox 0.03, or Ox 0.06 from 8 years of age and estrogen from 12 years. Sixty-eight women (Pl, n=23; Ox 0.03, n=27; and Ox 0.06, n=18) participated in the double-blind follow-up study (mean age, 24.0 years; mean time since stopping GH, 8.7 years; and mean time of Ox/Pl use, 4.9 years). We assessed height, body proportions, Breast size, virilization, and body composition. Results: Height gain (final minus predicted adult height) was maintained at follow-up (Ox 0.03 10.2 ±4.9 cm, Ox 0.06 9.7±4.4 cm vs Pl 8.0±4.6 cm). Breast size, Tanner Breast stage, and body composition were not different between groups. Ox-treated women reported more subjective virilization and had a lower voice frequency. Conclusion: Ox 0.03 mg/kg per day has a beneficial effect on adult height gain in TS patients. Despite previously reported deceleration of Breast Development during Ox 0.03 treatment, adult Breast size is not affected. Mild virilization persists in only a small minority of patients. The long-term evaluation indicates that Ox 0.03 treatment is effective and safe.
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efficacy and safety of oxandrolone in growth hormone treated girls with turner syndrome
The Journal of Clinical Endocrinology and Metabolism, 2010Co-Authors: Leonie A Menke, Theo C J Sas, Sabine M P F De Muinck Keizerschrama, Gladys R J Zandwijken, Maria A J De Ridder, R J Odink, Maarten Jansen, Henriette Delemarrevan A De Waal, Wilhelmina H Stokvisbrantsma, J J J WaelkensAbstract:Context and Objective: GH therapy increases growth and adult height in Turner syndrome (TS). The benefit to risk ratio of adding the weak androgen oxandrolone (Ox) to GH is unclear. Design and Participants: A randomized, placebo-controlled, double-blind, dose-response study was performed in 10 centers in The Netherlands. One hundred thirty-three patients with TS were included in age group 1 (2-7.99 yr), 2 (8-11.99 yr), or 3 (12-15.99 yr). Patients were treated with GH (1.33 mg/m2· d) from baseline, combined with placebo (Pl) or Ox in low(0.03mg/kg · d) or conventional (0.06 mg/kg · d) dose from the age of 8yr and estrogens from the age of 12 yr. Adult height gain (adult height minus predicted adult height) and safety parameters were systematically assessed. Results: Compared with GH+Pl, GH+Ox 0.03 increased adult height gain in the intention-to-treat analysis (mean ± SD, 9.5 ± 4.7 vs. 7.2 ± 4.0 cm, P = 0.02) and per-protocol analysis (9.8 ± 4.9 vs. 6.8 ± 4.4 cm, P = 0.02). Partly due to accelerated bone maturation (P < 0.001), adult height gain on GH + Ox 0.06 was not significantly different from that on GH+Pl (8.3 ± 4.7 vs. 7.2 ± 4.0 cm, P=0.3). Breast Development was slower on GH+Ox (GH+Ox 0.03, P = 0.02; GH+Ox 0.06, P = 0.05), and more girls reported virilization on GH+Ox 0.06 than on GH+Pl (P = 0.001). Conclusions: In GH-treated girls with TS, we discourage the use of the conventional Oxdosage (0.06 mg/kg · d) because of its low benefit to risk ratio. The addition of Ox 0.03 mg/kg · d modestly increases adult height gain and has a fairly good safety profile, except for some deceleration of Breast Development. Copyright © 2010 by The Endocrine Society.
A Hassanzadeh Rad - One of the best experts on this subject based on the ideXlab platform.
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PO-0093 Familial Pure Gonadal Dysgenesis
Archives of Disease in Childhood, 2014Co-Authors: Setilla Dalili, Shahin Kohmanaee, A Hassanzadeh RadAbstract:Introduction Gonadal dysgenesis in females which would be presented with 46 XX is characterised by the presence of primary amenorrhea with or without normal secondary sexual characteristics. It is commonly described without normal secondary sexual characteristics such as Breast Development. In this study, we aimed to report a familial pure gonadal dysgenesis with and without normal secondary sexual characteristics. Case presentations In a family consisting 9 siblings of non-consanguineous parents, three sisters (age 22, 17 and 13 years) presented with complaints of amenorrhoea. The 13 years old girl mentioned no secondary characteristics of puberty. The 17 years old girl showed secondary characteristics of puberty without previous history of hormone therapy. Also, the 22 years old girl showed secondary characteristics and clinicians recommended hormone therapy after marriage for her infertility and even delivered a baby. The elder two sisters had a normal female phenotype and the youngest had amenorrhea with no Breast Development (B1) and pubic hair. Furthermore, according to physical examination, deafness was not mentioned. Conclusions According to results, it seems that clinicians should consider different presentation for pure gonadal dysgenesis with familial pattern and further evaluation is needed in malignant degeneration of the gonadal dysgenesis in the patients with 46, XX PGD.
Setilla Dalili - One of the best experts on this subject based on the ideXlab platform.
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Pure gonadal dysgenesis (46 XX type) with a familial pattern.
Advanced Biomedical Research, 2015Co-Authors: Shahin Kohmanaee, Setilla Dalili, Afagh Hassanzadeh RadAbstract:46, XX gonadal dysgenesis without the phenotype of Turner's syndrome is described as "pure". Although, previous investigations obtained that commonly gonadal dysgenesis did not cause Breast Development as a result of low levels of circulating estradiol. However, in this study, we aimed to report a familial pure gonadal dysgenesis with and without normal secondary sexual characteristics. In this study, we reported three siblings with pure gonadal dysgenesis with and without normal secondary sexual characteristics. The elder two sisters had a normal female phenotype and the youngest had amenorrhea with no Breast Development (B1) and pubic hair. In addition, it seems that the absence of pubic hair occurred due to delayed constitutional puberty. According to results, it seems that clinicians should consider different presentations for pure gonadal dysgenesis with familial pattern.
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PO-0093 Familial Pure Gonadal Dysgenesis
Archives of Disease in Childhood, 2014Co-Authors: Setilla Dalili, Shahin Kohmanaee, A Hassanzadeh RadAbstract:Introduction Gonadal dysgenesis in females which would be presented with 46 XX is characterised by the presence of primary amenorrhea with or without normal secondary sexual characteristics. It is commonly described without normal secondary sexual characteristics such as Breast Development. In this study, we aimed to report a familial pure gonadal dysgenesis with and without normal secondary sexual characteristics. Case presentations In a family consisting 9 siblings of non-consanguineous parents, three sisters (age 22, 17 and 13 years) presented with complaints of amenorrhoea. The 13 years old girl mentioned no secondary characteristics of puberty. The 17 years old girl showed secondary characteristics of puberty without previous history of hormone therapy. Also, the 22 years old girl showed secondary characteristics and clinicians recommended hormone therapy after marriage for her infertility and even delivered a baby. The elder two sisters had a normal female phenotype and the youngest had amenorrhea with no Breast Development (B1) and pubic hair. Furthermore, according to physical examination, deafness was not mentioned. Conclusions According to results, it seems that clinicians should consider different presentation for pure gonadal dysgenesis with familial pattern and further evaluation is needed in malignant degeneration of the gonadal dysgenesis in the patients with 46, XX PGD.