"Sexual differentiation: From genes to gender"

Amy Wisniewski is Assistant Professor of Biology at Drake University, Des Moines, Iowa. She can be contacted at [email protected] person's sex can be considered across various levels. To illustrate, genes, hormones, and genitalia can all be considered physical markers of a person's sex. In addition to physical markers, behaviors such as gender role, gender identity and sexual orientation can be perceived as stereotypically male or female. The purpose of this review is to summarize current knowledge of sexual differentiation which emphasizes genetic and hormonal mechanisms that result in male and female development of gonads and genitalia. Finally, consideration is given to associations between genetic sex, gonadal sex, and hormonal sex with gender. Copyright 1998 S Karger AG

Regulation of plasma aldosterone concentration in anephric man and renal transplant recipients

Regulation of plasma aldosterone concentration in anephric man and renal transplant recipients. Regulatory factors controlling plasma aldosterone in the anephric state were further examined in bilaterally nephrectomized patients and renal transplant recipients. The effect of supine and upright posture on the concentration of plasma aldosterone, and the possible role of potassium in these responses in the anephric patients, was studied on the first and either the third or fourth day post-dialysis (anephric patients) and during periods of high and low sodium intake (renal transplant recipients). As previously reported, a significant correlation between plasma aldosterone and serum potassium concentration (r = 0.871, P<0.001) could be demonstrated in anephric patients. In addition, the present studies demonstrate that in a single anephric individual, changes in serum potassium concentration are associated with concordant alterations in plasma aldosterone concentration (r value for Δ plasma aldosterone concentration in anephric patients on the third or fourth day post-dialysis was 0.911, P<0.005). Changes in posture from supine to upright produced no change in the concentration of plasma aldosterone in the anephric patients that could not be attributed to variations in the serum potassium concentration. In contrast, the plasma aldosterone concentration in renal transplant recipients increased significantly after two hours of ambulation during both high and low sodium intake, and was correlated with plasma renin activity (PRA). These studies demonstrate that plasma aldosterone, in the absence of the kidneys, is unresponsive to postural variation under conditions in which significant changes in plasma aldosterone concentrations are observed in renal transplant recipients. Thus, additional evidence indicating that changes in potassium rather than volume-related stimuli are the primary regulator of plasma aldosterone in anephric patients is provided.Régulation de la concentration plasmatique d'aldostérone au cours de l'anéphrie et après la transplantation rénale. Les facteurs régulateurs contrôlant la secrétion d'aldostérone au cours de l'anéphrie ont été étudiés chez des malades ayant subi une néphrectomie bilatérale et chez des transplantés. L'effet de la position couchée ou debout sur la concentration plasmatique d'aldostérone et le rôle possible du potassium dans ces réponses chez le malade anéphrique ont été étudiés le premier et le troisième ou quatrième jour après dialyse (malades anéphriques) et durant des périodes de régime riche puis pauvre en sodium (receveurs de reins transplantés). Ainsi que nous l'avons antérieurement rapporté il existe une corrélation significative entre les concentrations plasmatiques d'aldostérone et de potassium (r = 0,871; P<0,001) chez le malade anéphrique. De surcroît, l'étude actuelle démontre que chez un même sujet anéphrique les modifications de la concentration du potassium sont associées à des modifications concordantes de la concentration plasmatique d'aldostérone (le r de la corrélation Δ du potassium plasmatique avec Δ d'aldostérone plasmatique chez le sujet anéphrique le troisième ou le quatrième jour post dialyse est égal à 0,911; P<0,005). Le passage de la position couchée à la position debout ne produit pas de modification de l'aldostérone plasmatique, chez les sujets anéphriques, qui ne pourraient être attribués aux modifications du potassium plasmatique. Al'opposé, l'aldostérone plasmatique chez les transplantés augmente significativement après 2 heures d'ambulation, que le régime soit riche ou pauvre en sel, et elle est correlée avec l'activité rénine plasmatique. Ces résultats démontrent que la secrétion d'aldostérone, en l'absence de reins, ne répond pas auxh modifications posturales dans des conditions où des modifications significatives de la concentration plasmatique d'aldostérone sont observées chez les sujets transplantés. Ainsi des arguments supplémentaires indiquent que les modifications de potassium, plus que des stimuli volémiques, sont le facteur primaire de la régulation de la secrétion d'aldostérone chez l'anéphrique

Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

<p>Abstract</p> <p>Background</p> <p>Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common presentation of a disorder of sex development (DSD) in genetic females. A report of prenatal growth retardation in cases of 46,XY DSD, coupled with observations of below-optimal final height in both males and females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, prompted us to investigate prenatal growth in the latter group. Additionally, because girls with congenital adrenal hyperplasia are exposed to increased levels of androgens in the absence of a male sex-chromosome complement, the presence or absence of typical sex differences in growth of newborns would support or refute a hormonal explanation for these differences.</p> <p>Methods</p> <p>In total, 105 newborns with congenital adrenal hyperplasia were identified in our database. Gestational age (weeks), birth weight (kg), birth length (cm) and parental heights (cm) were obtained. Mid-parental height was considered in the analyses.</p> <p>Results</p> <p>Mean birth weight percentile for congenital adrenal hyperplasia was 49.26%, indicating no evidence of a difference in birth weight from the expected standard population median of 50th percentile (<it>P </it>> 0.05). The expected sex difference in favor of heavier males was not seen (<it>P </it>> 0.05). Of the 105 subjects, 44 (27%; 34 females, 10 males) had birth length and gestational age recorded in their medical chart. Mean birth length for this subgroup was 50.90 cm (63rd percentile), which differed from the expected standard population median of 50th percentile (<it>P </it>= 0.0082). The expected sex difference in favor of longer males was also not seen (<it>P </it>> 0.05).</p> <p>Conclusion</p> <p>The prenatal growth retardation patterns reported in cases of 46,XY disorders of sex development do not generalize to people with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Sex differences in body weight and length typically seen in young infants were not seen in the subjects who participated in this study. We speculate that these differences were ameliorated in this study because of increased levels of prenatal androgens experienced by the females infants.</p

Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative

Patients with rare and complex diseases such as congenital adrenal hyperplasia (CAH) often receive fragmented and inadequate care unless efforts are coordinated among providers. Translating the concepts of the medical home and comprehensive health care for individuals with CAH offers many benefits for the affected individuals and their families. This manuscript represents the recommendations of a 1.5 day meeting held in September 2009 to discuss the ideal goals for comprehensive care centers for newborns, infants, children, adolescents, and adults with CAH. Participants included pediatric endocrinologists, internal medicine and reproductive endocrinologists, pediatric urologists, pediatric surgeons, psychologists, and pediatric endocrine nurse educators. One unique aspect of this meeting was the active participation of individuals personally affected by CAH as patients or parents of patients. Representatives of Health Research and Services Administration (HRSA), New York-Mid-Atlantic Consortium for Genetics and Newborn Screening Services (NYMAC), and National Newborn Screening and Genetics Resource Center (NNSGRC) also participated. Thus, this document should serve as a “roadmap” for the development phases of comprehensive care centers (CCC) for individuals and families affected by CAH

Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative

Patients with rare and complex diseases such as congenital adrenal hyperplasia (CAH) often receive fragmented and inadequate care unless efforts are coordinated among providers. Translating the concepts of the medical home and comprehensive health care for individuals with CAH offers many benefits for the affected individuals and their families. This manuscript represents the recommendations of a 1.5 day meeting held in September 2009 to discuss the ideal goals for comprehensive care centers for newborns, infants, children, adolescents, and adults with CAH. Participants included pediatric endocrinologists, internal medicine and reproductive endocrinologists, pediatric urologists, pediatric surgeons, psychologists, and pediatric endocrine nurse educators. One unique aspect of this meeting was the active participation of individuals personally affected by CAH as patients or parents of patients. Representatives of Health Research and Services Administration (HRSA), New York-Mid-Atlantic Consortium for Genetics and Newborn Screening Services (NYMAC), and National Newborn Screening and Genetics Resource Center (NNSGRC) also participated. Thus, this document should serve as a “roadmap” for the development phases of comprehensive care centers (CCC) for individuals and families affected by CAH

Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative

Abstract Patients with rare and complex diseases such as congenital adrenal hyperplasia (CAH) often receive fragmented and inadequate care unless efforts are coordinated among providers. Translating the concepts of the medical home and comprehensive health care for individuals with CAH offers many benefits for the affected individuals and their families. This manuscript represents the recommendations of a 1.5 day meeting held in September 2009 to discuss the ideal goals for comprehensive care centers for newborns, infants, children, adolescents, and adults with CAH. Participants included pediatric endocrinologists, internal medicine and reproductive endocrinologists, pediatric urologists, pediatric surgeons, psychologists, and pediatric endocrine nurse educators. One unique aspect of this meeting was the active participation of individuals personally affected by CAH as patients or parents of patients. Representatives of Health Research and Services Administration (HRSA), New York-Mid-Atlantic Consortium for Genetics and Newborn Screening Services (NYMAC), and National Newborn Screening and Genetics Resource Center (NNSGRC) also participated. Thus, this document should serve as a "roadmap" for the development phases of comprehensive care centers (CCC) for individuals and families affected by CAH

Fixing Sex: Intersex, Medical Authority, and Lived Experience

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