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1.
Eur J Med Genet ; 64(11): 104332, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34481091

RESUMO

Balanced chromosomal rearrangements with a breakpoint located upstream of the sex determining region Y-box 9 (SOX9) gene on chromosome 17q24.3 are associated with skeletal abnormalities, campomelic dysplasia (CMPD), or acampomelic campomelic dysplasia (ACMPD). We report on a female patient with a reciprocal translocation of t (11; 17) (p15.4; q24.3), who was diagnosed with acampomelic campomelic dysplasia. The 34-year-old Japanese patient presented with distinct skeletal abnormalities, profound intellectual disability, and female phenotype despite the presence of Y chromosome and the sex determining region Y (SRY) gene. Her menarche started at 33 years and 4 months after hormone therapy of estrogen therapy followed by estrogen progesterone therapy. By conducting whole genome sequencing followed by Sanger sequencing validation, we determined the precise breakpoint positions of the reciprocal translocation, one of which was located 203 kb upstream of the SOX9 gene. Considering the phenotypic variations previously reported among the CMPD/ACMPD patients with a chromosomal translocation in the vicinity of SOX9, the identified translocation was concluded to be responsible for all major phenotypes observed in the patient.


Assuntos
Displasia Campomélica/genética , Cromossomos Humanos Par 17/genética , Transtornos do Desenvolvimento Sexual/genética , Translocação Genética , Adulto , Displasia Campomélica/tratamento farmacológico , Displasia Campomélica/patologia , Pontos de Quebra do Cromossomo , Cromossomos Humanos Y/genética , Transtornos do Desenvolvimento Sexual/tratamento farmacológico , Transtornos do Desenvolvimento Sexual/patologia , Feminino , Humanos , Fenótipo , Fatores de Transcrição SOX9/genética
2.
Zhejiang Da Xue Xue Bao Yi Xue Ban ; 49(3): 297-301, 2020 05 25.
Artigo em Chinês | MEDLINE | ID: mdl-32762157

RESUMO

OBJECTIVE: To investigate the efficacy and safety of aromatase inhibitor letrozole in treatment of male children with disorders of sex development (DSD). METHODS: Clinical data of 12 male DSD children with a mean age of 14.6±2.5 years admitted to Peking Union Medical College Hospital from January 2014 to January 2016 were retrospectively analyzed. The patients were treated with letrozole (1.25-2.5 mg, once a day) for 3 months or longer, and followed up for 0.5-2.5 years. Clinical manifestation and laboratory test findings were documented, and the efficacy and safety were evaluated. RESULTS: After half-year treatment, the blood luteinizing hormone (LH), follicle-stimulating hormone (FSH) and testosterone levels of patients increased (all P < 0.05), and estrogen levels decreased from baseline ( P < 0.05). After 1 year of treatment, the blood testosterone level was significantly higher ( P < 0.05); the LH and FSH levels tended to increase and the estrogen level tended to decrease, but there was no significant statistical difference ( P>0.05). Semen was routinely detected in 8 patients, and sperms were detected in semen of 3 patients with hypospadias. There were no significant changes in biochemical results after treatment, and no significant adverse event was observed during the treatment. CONCLUSIONS: Letrozole can effectively increase testosterone levels in patients with disorders of sex development and promote spermatogenesis, it has no significant adverse effects in short-term administration.


Assuntos
Transtornos do Desenvolvimento Sexual/tratamento farmacológico , Letrozol/uso terapêutico , Adolescente , Criança , Hormônio Foliculoestimulante , Humanos , Hormônio Luteinizante , Masculino , Estudos Retrospectivos , Testosterona
3.
Am J Mens Health ; 14(3): 1557988320922443, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32448030

RESUMO

During adolescence, androgens are responsible for the development of secondary sexual characteristics, pubertal growth, and the anabolic effects on bone and muscle mass. Testosterone is the most abundant testicular androgen, but some effects are mediated by its conversion to the more potent androgen dihydrotestosterone (DHT) or to estradiol. Androgen deficiency, requiring replacement therapy, may occur due to a primary testicular failure or secondary to a hypothalamic-pituitary disorder. A very frequent condition characterized by a late activation of the gonadal axis that may also need androgen treatment is constitutional delay of puberty. Of the several testosterone or DHT formulations commercially available, very few are employed, and none is marketed for its use in adolescents. The most frequently used androgen therapy is based on the intramuscular administration of testosterone enanthate or cypionate every 3 to 4 weeks, with initially low doses. These are progressively increased during several months or years, in order to mimic the physiology of puberty, until adult doses are attained. Scarce experience exists with oral or transdermal formulations. Preparations containing DHT, which are not widely available, are preferred in specific conditions. Oxandrolone, a non-aromatizable drug with higher anabolic than androgenic effects, has been used in adolescents with preserved testosterone production, like Klinefelter syndrome, with positive effects on cardiometabolic health and visual, motor, and psychosocial functions. The usual protocols applied for androgen therapy in boys and adolescents are discussed.


Assuntos
Androgênios/administração & dosagem , Terapia de Reposição Hormonal , Síndrome de Klinefelter/tratamento farmacológico , Adolescente , Criança , Protocolos Clínicos , Transtornos do Desenvolvimento Sexual/tratamento farmacológico , Transtornos do Desenvolvimento Sexual/fisiopatologia , Humanos , Masculino , Avaliação de Resultados em Cuidados de Saúde , Puberdade
4.
J Clin Endocrinol Metab ; 105(5)2020 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-32016383

RESUMO

INTRODUCTION: The relationship between serum anti-Müllerian hormone (AMH) and the testosterone response to human chorionic gonadotropin (hCG) stimulation test is unclear. METHODS: Children who had hCG stimulation tests in one tertiary centre from 2001 to 2018 were included (n = 138). Serum testosterone was measured before (day 1 [D1]) and after 3 days (D4) of hCG stimulation. Sixty-one of these children also had prolonged hCG stimulation for 2 more weeks and serum testosterone measured after 21 days (D22). All children had a serum AMH measured on D1. RESULTS: Of the 138 children, D4 testosterone was normal in 104 (75%). AMH was low in 24/138 (17%) children, and 16 (67%) of these had a low D4 testosterone. Median AMH in those who had a normal vs low D4 testosterone was 850 pmol/L (24, 2280) and 54 pmol/L (0.4, 1664), respectively (P < 0.0001). An AMH > 5th centile was associated with a low D4 testosterone in 18/118 (13%; P < 0.0001). Of the 61 children who had prolonged hCG stimulation, D22 testosterone was normal in 39 (64%). AMH was low in 10/61(16%) children and 9 (90%) of these had a low D22 testosterone. Median AMH in children who responded and did not respond by D22 was 639 pmol/L (107, 2280) and 261 pmol/L (15, 1034) (P < 0.0001). CONCLUSION: A normal AMH may provide valuable information on overall testicular function. However, a low AMH does not necessarily predict a suboptimal testosterone response to hCG stimulation.


Assuntos
Hormônio Antimülleriano/sangue , Biomarcadores Farmacológicos/sangue , Gonadotropina Coriônica/uso terapêutico , Transtornos do Desenvolvimento Sexual/sangue , Transtornos do Desenvolvimento Sexual/tratamento farmacológico , Adolescente , Biomarcadores Farmacológicos/análise , Criança , Pré-Escolar , Técnicas de Diagnóstico Endócrino , Transtornos do Desenvolvimento Sexual/diagnóstico , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Valor Preditivo dos Testes , Prognóstico , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade , Testosterona/sangue , Reino Unido
5.
J Formos Med Assoc ; 118(1 Pt 3): 450-456, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30017534

RESUMO

BACKGROUND/PURPOSE: 45,X/46,XY mosaicism is a rare sex chromosome abnormality. Here, we present our experience in the management of 45,X/46,XY Taiwanese children. PATIENTS AND METHODS: We enrolled 19 patients from January 1981 to September 2016. The diagnosis of 45,X/46,XY mosaicism was made by karyotyping peripheral blood lymphocytes. All medical records were thoroughly reviewed. RESULTS: Of the 19 patients, 16 were reared as females and 3 as males. The age at diagnosis ranged from 1 month to 15 years and 9 months. Atypical genitalia, short stature, and Turner stigmata were common manifestations. No patient exhibited a cardiac malformation but 29% had renal malformations and 12.5% had autoimmune thyroid disease who developed thyroid dysfunction later. Nine girls with short stature received growth hormone therapy and their height standard deviation score rose from -3.4 ± 1.1 to -1.4 ± 0.9 in adulthood (P < 0.01). The gonadal phenotypes included bilateral streak gonads in nine patients, a streak gonad with contralateral gonadal agenesis in one, mixed gonadal dysgenesis in five, bilateral dysgenetic testes in two, and bilateral gonadoblastomas in one. CONCLUSION: The 45,X/46,XY phenotype varies widely and a high index of suspicion is important to ensure early diagnosis. Cardiac and renal malformations should be screened ultrasonically at diagnosis and thyroid status should be monitored annually. Growth hormone effectively improves adult height in short girls. Prophylactic gonadectomy is indicated for those with intra-abdominal streaks or dysgenetic gonads to prevent the development of a malignancy.


Assuntos
Transtornos do Desenvolvimento Sexual/tratamento farmacológico , Transtornos do Desenvolvimento Sexual/genética , Hormônio do Crescimento/uso terapêutico , Mosaicismo , Adolescente , Estatura/genética , Criança , Pré-Escolar , Feminino , Disgenesia Gonadal Mista/genética , Gonadoblastoma/genética , Humanos , Lactente , Cariotipagem , Masculino , Taiwan , Síndrome de Turner/genética
6.
Glia ; 67(2): 309-320, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30485552

RESUMO

Gonadotropin releasing hormone (GnRH)-secretion is not only regulated by neuronal factors but also by astroglia cells via growth factors and ErbB receptors of the epidermal growth factor family. Studies in transgenic mice carrying mutations in the ErbB receptor system experience impaired reproductive capacity. In addition, some of these animals show a typical skin phenotype with wavy hair and curly whiskers. The rat strain SPRD-CU3 (CU3), examined in this study, displays a similar skin phenotype and a significant impairment of the timing of puberty onset and reproductive performance, suggesting a disruption in the astrocytic to GnRH neuronal communication. To address this issue, we analyzed astrocytic prostaglandin E2 (PGE2 ) release from primary hypothalamic astrocytic cell cultures after stimulation with transforming growth factor α (TGFα), ligand for ErbB1/ErbB2, or Neuregulin 1 beta 2 (NRG1ß2 ), ligand for ErbB4/ErbB2 signaling pathway. Compared to cultures from wild type animals, astrocytic cultures from CU3 rats were unable to respond to NRG stimulation, suggesting a disruption of the ErbB4/ErbB2 signaling pathway. This is confirmed by mutational analysis of ErbB4 that revealed a single point mutation at 3125 bp resulting in an amino acid change from proline to glutamine located at the carboxy-terminal region. As a consequence, substantial conformational changes occur in the transmembrane and intracellular domain of the protein, affecting the ability to form a receptor dimer with a partner and the ability to function as a transcriptional regulator. Thus, astroglia to GnRH neuronal signaling via ErbB4 is essential of timely onset of puberty and reproductive function.


Assuntos
Astrócitos/efeitos dos fármacos , Dinoprostona/metabolismo , Transtornos do Desenvolvimento Sexual/patologia , Hormônio Liberador de Gonadotropina/metabolismo , Neurregulinas/farmacologia , Neurônios/metabolismo , Receptor ErbB-4/genética , Animais , Astrócitos/metabolismo , Células Cultivadas , Modelos Animais de Doenças , Transtornos do Desenvolvimento Sexual/tratamento farmacológico , Transtornos do Desenvolvimento Sexual/genética , Transtornos do Desenvolvimento Sexual/metabolismo , Feminino , Regulação da Expressão Gênica/genética , Regulação da Expressão Gênica/efeitos da radiação , Hipotálamo/citologia , Modelos Moleculares , Proteínas do Tecido Nervoso/metabolismo , Neurônios/efeitos dos fármacos , Mutação Puntual/genética , Ratos , Ratos Transgênicos , Receptor ErbB-4/metabolismo , Fator de Crescimento Transformador alfa/metabolismo
9.
Best Pract Res Clin Endocrinol Metab ; 29(3): 437-47, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26051301

RESUMO

Congenital disruptions of sex hormone production lead to wide-ranging developmental and physiological effects in individuals who have atypical chromosomal, gonadal or anatomic sex. Aberrant developmental sex hormone exposure causes disorders of genital anatomy, attainment of secondary sexual characteristics and has long-term effects on metabolism, fertility and psychological functioning. Principles in the management of disorders of sex development (DSD) aim to improve physiological health and long-term outcome, as well as development of male or female sexual anatomy. Concerns raised by DSD patient advocacy groups about beneficence and autonomy with respect to prescribed hormone treatments and avoidance of unnecessary genital and gonadal surgery have demanded greater informed consent and attention to long-term outcome. Hormone treatment is influenced by underlying clinical diagnosis and by factors such as sex of rearing and gender identity of the affected individual. We describe diagnostic criteria for different DSDs, clinical considerations in management protocols, together with current concepts and detailed practical hormone treatments for male and female individuals with DSD. Gender identity issues requiring multidisciplinary consensus, ethical consideration and informed consent or assent from the young person are also addressed.


Assuntos
Androgênios/uso terapêutico , Transtornos do Desenvolvimento Sexual/tratamento farmacológico , Terapia de Reposição de Estrogênios/métodos , Estrogênios/uso terapêutico , Identidade de Gênero , Gonadotropinas/uso terapêutico , Transtornos do Desenvolvimento Sexual/diagnóstico , Transtornos do Desenvolvimento Sexual/psicologia , Feminino , Terapia de Reposição Hormonal/métodos , Humanos , Masculino , Testosterona/uso terapêutico
10.
Endocr Dev ; 27: 149-59, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25247652

RESUMO

People with disorders of sex development (DSD) may have impaired sex steroid production or their gonads removed before, during or after adolescence, thus requiring hormone replacement therapy (HRT) to induce puberty and/or maintain secondary sexual characteristics, to optimize bone health, and to promote physical and social well-being. Oestrogens are usually used for this purpose in persons reared as females (eventually combined with progestins if a uterus is present) and androgens in those reared as males. An alternative therapy for women with ascertained complete androgen insensitivity syndrome could be testosterone, because this is the main sex steroid hormone secreted by their gonads, but this approach remains to be better explored. Few sound evidence-based data are available to guide HRT administration at puberty and in adulthood in individuals with DSD, but recent data and new formulations may give better perspectives for the future.


Assuntos
Androgênios/uso terapêutico , Transtornos do Desenvolvimento Sexual/tratamento farmacológico , Estrogênios/uso terapêutico , Terapia de Reposição Hormonal/métodos , Humanos
11.
J Obstet Gynaecol Res ; 40(7): 1913-24, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25056471

RESUMO

AIM: To review and evaluate the efficacy of kidney-tonifying traditional Chinese medicine prescriptions (KT-TCMP) in hypoplastic uterus (HU) treatment. METHODS: We searched MEDLINE, the Cochrane Library, CNKI (China National Knowledge Infrastructure), WANFANG and VIP databases until 14 December 2013 independently with two investigators. Randomized controlled trials (RCT) involving KT-TCMP as a combined or monotherapy in the treatment of HU were reviewed and analyzed. Meta-analysis was performed by Review Manager (version 5.2). RESULTS: Nine RCT of 1745 patients were eligible for this review and meta-analysis, of which eight RCT described the primary outcome of clinical efficacy and three RCT drew the secondary outcome of uterine size. Meta-analyzed 'recovery' clinical efficacy of KT-TCMP in seven RCT was conducted which considered diethylstilbestrol therapy alone as control, as well as three RCT that meta-analyzed the effect of KT-TCMP on uterine diameter enlargement. As a result, KT-TCMP therapy had a significantly improved difference in increasing 'recovery' clinical efficacy (risk ratio, 2.34; 95% confidence interval [CI], 1.90-2.89) and enlarging the uterine diameter (standardized mean difference, 1.62; 95% CI, 1.39-1.84). One study reported adverse reactions as an important outcome and found it was safe during KT-TCMP therapy. CONCLUSION: The therapy of applying KT-TCMP as a combined or monotherapy in the treatment of HU may be more efficacious. However, these RCT were of moderate methodological quality and small sample size; thus, the results should be confirmed with more rigorously controlled further studies.


Assuntos
Transtornos do Desenvolvimento Sexual/tratamento farmacológico , Medicamentos de Ervas Chinesas/uso terapêutico , Fitoterapia , Doenças Uterinas/tratamento farmacológico , Útero/efeitos dos fármacos , Transtornos do Desenvolvimento Sexual/patologia , Medicamentos de Ervas Chinesas/efeitos adversos , Feminino , Humanos , Tamanho do Órgão/efeitos dos fármacos , Fitoterapia/efeitos adversos , Ensaios Clínicos Controlados Aleatórios como Assunto , Doenças Uterinas/congênito , Doenças Uterinas/patologia , Útero/anormalidades , Útero/patologia
12.
Indian J Pediatr ; 81(8): 821-3, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23702801

RESUMO

5α-reductase (5α-R) deficiency is an important cause of ambiguious genitalia in genetic males; however therapeutic experience in literature is limited. In this report authors describe a child with 46 XY Disorder of Sexual Differentiation (DSD), due to 5α-reductase deficiency, who was managed with Dihydrotestosterone (DHT) gel.


Assuntos
Colestenona 5 alfa-Redutase/deficiência , Di-Hidrotestosterona/administração & dosagem , Transtornos do Desenvolvimento Sexual/tratamento farmacológico , Administração Cutânea , Géis , Humanos , Lactente , Masculino
15.
Intern Med J ; 43(3): 334-7, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23441661

RESUMO

Congenital adrenal hyperplasia (CAH) is an uncommon condition. Its clinical presentation with hypertension is rare. Deficiency of the steroid 11-beta-hydroxylase accounts for less than 10% of CAH. We report a case of a 19-year-old patient who presents with hypertension with ambiguous genitalia secondary to adrenal steroidogenesis dysfunction. We also discuss the defects in adrenal steroidogenesis and clinical phenotypes of CAH.


Assuntos
Hiperplasia Suprarrenal Congênita/diagnóstico , Transtornos do Desenvolvimento Sexual/diagnóstico , Hipertensão/diagnóstico , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Transtornos do Desenvolvimento Sexual/complicações , Transtornos do Desenvolvimento Sexual/tratamento farmacológico , Glucocorticoides/uso terapêutico , Humanos , Hipertensão/complicações , Hipertensão/tratamento farmacológico , Masculino , Adulto Jovem
16.
J Pediatr Urol ; 8(6): 611-5, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23158651

RESUMO

This paper is a review of some of the recent publications regarding outcome of DSD patients, with an emphasis upon surgical and sexual outcomes. Currently available outcome studies of patients with DSDs have limitations because of multiple factors, including lack of representative patient sampling, and lack of adequate information concerning both medical and surgical care, and psychological, social and family support. The most frequent reports involve females with 21-α-hydroxylase deficiency congenital adrenal hyperplasia (CAH). This most common form of DSD, if one excludes hypospadias and cryptorchidism, is an excellent example of a form of DSD in which all aspects of outcome, regarding surgery, sexual functionality and sensitivity, psychological input and endocrine hormonal therapy, carry a major role. The goals of therapy include a surgical outcome with a good cosmetic appearance and functionality with potential for sexual intercourse with sufficient sensitivity for satisfactory responsiveness. Endocrine replacement therapy should provide a normal adrenal hormonal milieu, while sex steroid therapy may be indicated. Psychological care should be provided from birth with gradual transition primarily to the patient, including basic counseling with full disclosure, although adjustment depends upon the patient's personality and parents' abilities and acceptance. Among forms of DSD involving gonadal insufficiency, hormonal replacement therapy should provide physiologic levels. Among females, estrogen therapy enhances healing after feminizing surgery and is required from puberty throughout adult life to maintain femininity, sexual organs and bone health, and enhance gender and sexuality. Among males, appropriate testosterone therapy maintains stamina, muscle tone, bone health, libido, sexual potency and general well-being, while benefit for healing after genital surgery is unclear. Further, outcome is clearly related to predominant cultural factors. Outcome studies should include evaluation of all of these factors.


Assuntos
Transtornos do Desenvolvimento Sexual/tratamento farmacológico , Transtornos do Desenvolvimento Sexual/cirurgia , Hormônios Esteroides Gonadais/uso terapêutico , Procedimentos de Cirurgia Plástica/métodos , Sexualidade , Procedimentos Cirúrgicos Urogenitais/métodos , Criança , Feminino , Humanos , Masculino , Resultado do Tratamento
18.
Reprod Biol Endocrinol ; 10: 61, 2012 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-22913331

RESUMO

BACKGROUND: Prolonged pre-insemination anestrus (i.e. delayed puberty) is a major contributing factor for culling up to 30% of the replacement gilts at large breeding farm units in Vojvodina. It is imperative to determine if these gilts are acyclic (prepubertal) or cyclic, but just fail to exhibit behavioural estrus. Recent investigations demonstrate that treatment with equine chorionic gonadotropin (eCG) can increase the diestrous phase duration in sexually mature gilts. Based on these finding, the aim of the present studies was to determine the reproductive status of delayed puberty gilts following injection with eCG. METHODS: Two experiments were conducted on a swine breeding farm in Vojvodina. In Exp. 1, 20 prepubertal (acyclic) gilts, and 120 sexually mature (cyclic) gilts were injected with a single injection of 400 IU eCG + 200 IU human chorionic gonadotropin (hCG) or with 1000 IU eCG (cyclic gilts), at d5, d11 or d17 after spontaneous estrus detection, to determine their ovarian reaction and induced estrus manifestation. In Exp. 2, sixty delayed puberty gilts (estrus not detected until 8 month of age, av. 258 days) were culled from breeding herd and slaughtered to determine their reproductive status based on ovarian anatomical features. The second group of gilts (n = 60) was treated with a single 1000 IU eCG injection to determine their reproductive status, based on the interval between eCG injection to estrus detection and duration. The data were analyzed by descriptive statistics, t-test, analysis of variance and Duncan's test in the software package Statistics 10th. RESULTS: Ovulations were induced in 90% of acyclic (sexually immature) and, on average, 93.3% of cyclic (sexually mature) gilts after the eCG injection. On average, 4 days after the eCG injection, estrus was detected in 85% of the treated acyclic (sexually immature) gilts and in 95% (19/20) of the cyclic (sexually mature) gilts, treated with eCG on day 17 after spontaneous estrus detection. The interval from eCG to induced estrus detection was prolonged (av. 25 days) in 95% (19/20) of the sexually mature gilts treated with eCG on day 5 and in 90% (18/20) of gilts treated on day 11 after spontaneous estrus detection (Exp. 1). Forty anestrous gilts reached cyclic pubertal ovarian activity. Estrus manifestation was detected in 56 gilts (93.3% of the total 60 treated prolonged anestrous gilts, av. 259 days of age), after a single 1000 IU eCG injection. Thirty-four gilts (60.7% of the total gilts in estrus) with prolonged eCG to estrus interval (av. 24.7 days) were considered spontaneously cyclic (sexually mature), but behaviourally anestrous before treatment. The remaining 22 (39.3% of the total gilts in estrus) were considered truly sexually immature (acyclic) before the treatment or were eCG injected in the late luteal or proestrous phase of spontaneous estrous cycle (Exp. 2). CONCLUSIONS: In 66.7% of the delayed puberty gilts, pre-ovulatory follicles (PoF), corpora hemorrhagica (CH), corpora lutea (CL), or corpora albicantia (CA) were found on the ovaries upon post mortem examination. These gilts were considered as sexually mature before slaughtering. In 60.7% of the delayed puberty gilts, behavioural estrus was detected an average of 24.7 days following eCG injections. These gilts were considered as eCG treated during the luteal phase (diestrus) of the spontaneous estrus cycle. Both findings suggest that delayed puberty gilts actually reached cyclic pubertal ovarian activity (sexual maturity) before culling from the breeding herd.


Assuntos
Anestro/efeitos dos fármacos , Gonadotropina Coriônica/uso terapêutico , Transtornos do Desenvolvimento Sexual/veterinária , Estro/efeitos dos fármacos , Fármacos para a Fertilidade Feminina/uso terapêutico , Gonadotropinas Equinas/uso terapêutico , Oogênese/efeitos dos fármacos , Doenças dos Suínos/tratamento farmacológico , Criação de Animais Domésticos/métodos , Animais , Gonadotropina Coriônica/administração & dosagem , Gonadotropina Coriônica/efeitos adversos , Gonadotropina Coriônica/farmacologia , Transtornos do Desenvolvimento Sexual/tratamento farmacológico , Transtornos do Desenvolvimento Sexual/patologia , Transtornos do Desenvolvimento Sexual/fisiopatologia , Combinação de Medicamentos , Detecção do Estro/efeitos adversos , Detecção do Estro/métodos , Feminino , Fármacos para a Fertilidade Feminina/administração & dosagem , Fármacos para a Fertilidade Feminina/efeitos adversos , Fármacos para a Fertilidade Feminina/farmacologia , Gonadotropinas Equinas/administração & dosagem , Gonadotropinas Equinas/efeitos adversos , Gonadotropinas Equinas/farmacologia , Injeções Intramusculares/veterinária , Doenças Ovarianas/induzido quimicamente , Doenças Ovarianas/etiologia , Doenças Ovarianas/veterinária , Ovário/efeitos dos fármacos , Ovário/patologia , Ovário/fisiopatologia , Sérvia , Comportamento Sexual Animal/efeitos dos fármacos , Maturidade Sexual/efeitos dos fármacos , Sus scrofa , Suínos , Doenças dos Suínos/patologia , Doenças dos Suínos/fisiopatologia , Fatores de Tempo
19.
Curr Opin Endocrinol Diabetes Obes ; 19(3): 190-6, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22476104

RESUMO

PURPOSE OF REVIEW: This review of disorders of sex development (DSDs) in boys and men will outline the conditions that may lead to this phenotype, present some guidance on how to evaluate and investigate affected cases and then review the medical and surgical management and subsequent outcome. RECENT FINDINGS: DSDs are a wide range of relatively rare conditions which need multidisciplinary input. The underlying cause is clearer in girls with DSDs, but the actual diagnosis remains unclear in the majority of boys with DSDs. SUMMARY: There is a need to improve the diagnostic yield and develop standardized methods for assessing, describing and investigating DSDs as well as for reporting outcome. This will lead to improved clinical management and genetic counselling.


Assuntos
Transtornos do Desenvolvimento Sexual/diagnóstico , Transtornos do Desenvolvimento Sexual/cirurgia , Aconselhamento Genético/métodos , Genitália Masculina/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Adolescente , Adulto , Criança , Pré-Escolar , Tomada de Decisões , Transtornos do Desenvolvimento Sexual/tratamento farmacológico , Transtornos do Desenvolvimento Sexual/psicologia , Aconselhamento Genético/psicologia , Genitália Masculina/anormalidades , Genitália Masculina/efeitos dos fármacos , Humanos , Masculino , Fenótipo , Relações Profissional-Família , Procedimentos de Cirurgia Plástica/psicologia , Adulto Jovem
20.
Pediatr Ann ; 41(4): e1-7, 2012 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22494213

RESUMO

Children born with disorders of sexual differentiation (DSD) pose numerous challenges for the parents, family, and treating physicians. The pediatrician is usually the first medical contact for newborns with DSD or for toddlers and children who present with DSD at a later time. Several years ago, we formed a Gender Medicine Team (GMT) at Baylor College of Medicine and Texas Children's Hospital (TCH) to explore and evaluate the most appropriate management strategies, which had long been a matter of concern and contention. Subsequently, the GMT, composed of experts in the fields of endocrinology, ethics, genetics, gynecology, psychology, pediatric surgery, and urology, formed a Task Force to evaluate the information available from our own experiences and from reviews of the literature. Utilizing the Grading of Recommendation, Assessment, Development and Evaluation (GRADE) system to assess the evidence and recommendations, the Task Force developed a consensus statement for clinical management of DSD and for making appropriate sex assignments.


Assuntos
Consenso , Transtornos do Desenvolvimento Sexual/diagnóstico , Pré-Escolar , Transtornos do Desenvolvimento Sexual/tratamento farmacológico , Transtornos do Desenvolvimento Sexual/genética , Transtornos do Desenvolvimento Sexual/cirurgia , Humanos , Lactente , Texas
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