RESUMO
Disorders of sex development (DSD) is a class of diseases characterized by discordant phenotypes of sex chromosome karyotypes, gonads and external genitalia. The etiology is complex and the clinical manifestations are varied. Understanding the clinical characteristics of patients with various types of DSD help make accurate etiological diagnosis and prepare individualized treatment plans according to the etiology (including sex assignment, endocrine hormone replacement, surgery and fertility protection, etc.). Due to the increased risk of DSD in the second pregnancy of the parents of DSD patients, early preventive measures such as pre-pregnancy genetic counseling and prenatal diagnosis during pregnancy can effectively avoid or reduce the risk of DSD in their siblings.
Assuntos
Transtornos do Desenvolvimento Sexual , Transtornos do Desenvolvimento Sexual/diagnóstico , Transtornos do Desenvolvimento Sexual/genética , Transtornos do Desenvolvimento Sexual/prevenção & controle , Feminino , Hormônios , Humanos , Gravidez , IrmãosAssuntos
Transtornos do Desenvolvimento Sexual/prevenção & controle , Testes Genéticos , Diagnóstico Pré-Natal , Procedimentos Desnecessários , Testes Genéticos/ética , Testes Genéticos/normas , Humanos , Diagnóstico Pré-Natal/ética , Diagnóstico Pré-Natal/normas , Procedimentos Desnecessários/ética , Procedimentos Desnecessários/normasRESUMO
We report an 18-year-old Japanese male with a lack of secondary sex characterization and growth failure caused by a rare association between Rathke's cyst and hypophysitis. He was referred to us because of delayed secondary sex characterization. Endocrinological examination showed panhypopituitarism, and the replacement of hydrocortisone, levothyroxine, and desmopressin acetate (DDAVP) was initiated. Brain magnetic resonance imaging (MRI) showed a suprasellar region and a swollen pituitary stalk. The mass was partially resected using the transsphenoidal approach. The pathological diagnosis was hypophysitis and Rathke's cyst. Follow-up MRI performed 1 year after surgery showed that the size of sellar region had not changed. After surgery, in addition to pre-operative hormonal replacement, growth hormone and testosterone were initiated. Two years later, the size of sellar region remains unchanged. In conclusion, while an association between Rathke's cyst and hypophysitis is rare, we suggest that this condition should be included in differential diagnosis of the sellar region, even in adolescents.
Assuntos
Cistos do Sistema Nervoso Central/complicações , Transtornos do Desenvolvimento Sexual/etiologia , Transtornos do Crescimento/etiologia , Hipopituitarismo/complicações , Hipófise/imunologia , Neoplasias Hipofisárias/complicações , Adolescente , Desenvolvimento do Adolescente/efeitos dos fármacos , Cistos do Sistema Nervoso Central/fisiopatologia , Cistos do Sistema Nervoso Central/cirurgia , Transtornos do Desenvolvimento Sexual/prevenção & controle , Transtornos do Crescimento/prevenção & controle , Terapia de Reposição Hormonal , Hormônio do Crescimento Humano/uso terapêutico , Humanos , Hipopituitarismo/tratamento farmacológico , Hipopituitarismo/imunologia , Hipopituitarismo/fisiopatologia , Masculino , Tamanho do Órgão/efeitos dos fármacos , Hipófise/patologia , Hipófise/fisiopatologia , Hipófise/cirurgia , Neoplasias Hipofisárias/fisiopatologia , Neoplasias Hipofisárias/cirurgia , Testosterona/uso terapêutico , Resultado do TratamentoRESUMO
On February 3, 2010, a "Letter of Concern from Bioethicists," organized by fetaldex.org, was sent to report suspected violations of the ethics of human subjects research in the off-label use of dexamethasone during pregnancy by Dr. Maria New. Copies of this letter were submitted to the FDA Office of Pediatric Therapeutics, the Department of Health and Human Services (DHHS) Office for Human Research Protections, and three universities where Dr. New has held or holds appointments. We provide a critical appraisal of the Letter of Concern and show that it makes false claims, misrepresents scientific publications and websites, fails to meet standards of evidence-based reasoning, makes undocumented claims, treats as settled matters what are, instead, ongoing controversies, offers "mere opinion" as a substitute for argument, and makes contradictory claims. The Letter of Concern is a case study in unethical transgressive bioethics. We call on fetaldex.org to withdraw the letter and for co-signatories to withdraw their approval of it.
Assuntos
Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Correspondência como Assunto , Dexametasona/administração & dosagem , Transtornos do Desenvolvimento Sexual/prevenção & controle , Eticistas/normas , Doenças Fetais/tratamento farmacológico , Genitália Feminina/anormalidades , Uso Off-Label , Diagnóstico Pré-Natal , Experimentação Humana Terapêutica/ética , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/enzimologia , Ensaios Clínicos como Assunto , Transtornos do Desenvolvimento Sexual/etiologia , Esquema de Medicação , Comitês de Ética em Pesquisa , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/enzimologia , Genitália Feminina/cirurgia , Glucocorticoides/administração & dosagem , Humanos , Consentimento Livre e Esclarecido/ética , Masculino , Uso Off-Label/ética , Gravidez , Procedimentos de Cirurgia Plástica , Encaminhamento e Consulta , Esteroide 21-Hidroxilase/metabolismo , Estados Unidos , United States Food and Drug Administration , Virilismo/prevenção & controleAssuntos
Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/diagnóstico , Dexametasona/administração & dosagem , Transtornos do Desenvolvimento Sexual/prevenção & controle , Doenças Fetais/diagnóstico , Diagnóstico Pré-Natal , Experimentação Humana Terapêutica/ética , Hiperplasia Suprarrenal Congênita/enzimologia , Algoritmos , Transtornos do Desenvolvimento Sexual/etiologia , Esquema de Medicação , Comitês de Ética em Pesquisa , Feminino , Doenças Fetais/enzimologia , Genitália Feminina/cirurgia , Glucocorticoides/administração & dosagem , Humanos , Procedimentos de Cirurgia Plástica , Encaminhamento e Consulta , Esteroide 21-Hidroxilase/metabolismo , Estados Unidos , Virilismo/prevenção & controleAssuntos
Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Dexametasona/administração & dosagem , Transtornos do Desenvolvimento Sexual/prevenção & controle , Doenças Fetais/tratamento farmacológico , Genitália Feminina/cirurgia , Glucocorticoides/administração & dosagem , Experimentação Humana Terapêutica/ética , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/história , Transtornos do Desenvolvimento Sexual/etiologia , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/história , Genitália Feminina/anormalidades , História do Século XIX , História do Século XX , História do Século XXI , Homossexualidade , Humanos , Procedimentos de Cirurgia Plástica/história , Virilismo/prevenção & controleAssuntos
Hiperplasia Suprarrenal Congênita , Dexametasona/administração & dosagem , Transtornos do Desenvolvimento Sexual/prevenção & controle , Doenças Fetais , Consentimento Livre e Esclarecido/ética , Defesa do Paciente , Experimentação Humana Terapêutica/ética , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Ensaios Clínicos como Assunto , Dexametasona/efeitos adversos , Transtornos do Desenvolvimento Sexual/etiologia , Comitês de Ética em Pesquisa , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/tratamento farmacológico , Glucocorticoides/administração & dosagem , Glucocorticoides/efeitos adversos , Humanos , Programas de Rastreamento , Diagnóstico Pré-Natal , Sociedades , Estados Unidos , United States Food and Drug Administration , Virilismo/prevenção & controleRESUMO
Hormonal therapy forms part of the treatment of every intersex condition. For some conditions, such as salt-wasting congenital adrenal hyperplasia, hormonal replacement therapy is life saving because hormones necessary for survival (cortisol and aldosterone) are replaced. In contrast, other hormones such as androgens or mineralocorticoids are secreted in excessive amounts in congenital adrenal hyperplasia due to an enzyme imbalance, and the role of hormonal therapy is to suppress the unwanted hormone excess by exerting negative feedback. For patients with one of the many causes of hypogonadism, sex hormone replacement therapy may be prescribed to stimulate sexual development: growth of a hypoplastic penis in a young boy, pubertal changes (male or female), psychosexual development, and adult sexual behavior. It has equally important and highly beneficial effects on bone mineral density. Hormonal therapy is also used to treat the unborn child. For the last 20 years, prenatal dexamethasone treatment administered to the pregnant woman has been used to prevent the development of ambiguous genitalia in females with 21-hydroxylase deficiency. Outcome studies show this treatment to be well tolerated and, in general, efficacious. Intersex conditions are, however, difficult to treat because they may intrinsically perturb complex aspects of the person's gender identity, gender-role behavior, sexual orientation, sexual functioning, and psychologic adjustment. Furthermore, decisions made about the sex of an infant by doctors and parents do not always turn out to be correct; the person may grow up feeling uncertain about his or her gender identity, or worse still, harbor a sense of outrage about their life and treatment experiences. Such a person will have definite views about hormonal therapy when the time comes and skillful counseling will be needed. A vigorous debate about ethical aspects of current medical practices relating to intersex conditions has been waged for the last 7 years between certain patient advocacy organizations and the medical profession, and is expected to continue for some time. The quality of the debate will be improved by evidence. The results of a number of long-term follow-up studies have been published, and more are expected. The published studies show mixed, but mainly encouraging, results.