scholarly journals One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoria

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Liping Hou ◽  
Ming Zhao ◽  
Lijun Fan ◽  
Bingyan Cao ◽  
Jiajia Chen ◽  
...  
Keyword(s):  
Gender Role ◽  
Gene Mutation ◽  
Gender Dysphoria ◽  
Androgen Insensitivity Syndrome ◽  
Male Gender ◽  
Control Groups ◽  
Gender Assignment ◽  
Specific Diagnosis ◽  
Gender Reassignment

Abstract Background 46, XY disorders of sex development (46, XY DSD) are congenital disorders with 46, XY chromosomal karyotype but inconsistent gonadal/phenotypic sex. One of the biggest concerns for parents and clinicians is the gender assignment. However, there is no standard uniform of care nor consensus at present. We sought to evaluate the current treatment's rationality and provide a reference basis for the gender reassignment in 46, XY DSD patients with a specific diagnosis. Methods We conducted a cross-sectional survey of gender role with the Pre-school Activities Inventory (PSAI), the Children's Sex Role Inventory (CSRI) in 46, XY DSD patients and set up control groups comparison. Psychiatrist assessed gender dysphoria in patients ≥ 8-year-old with the criteria of diagnostic and statistical manual of mental disorders, 5th edition (DSM-5). Results A total of 112 responders of 136 patients participated in this study (82.4%, aged 2–17.8 years, median age: 4-year-old). The follow-up period was from 6 months to 10 years (median: 2 years). Twenty-five females were reassigned to the male gender after a specific diagnosis (16/25 (64%) in 5 alfa-reductase-2 deficiency (5α-RD2), 5/25 (20%) in partial androgen insensitivity syndrome (PAIS), 4/25 (16%) in NR5A1gene mutation). Male gender assignment increased from 55.3 (n = 62) to 77.7% (n = 87). The median PSAI score was similar to the control males in 5α-RD2, PAIS, and NR5A1 gene mutation groups (p > 0.05); while identical to the control females in complete androgen insensitivity syndrome (CAIS) and CYP17A1 gene mutation groups (p > 0.05). PSAI score of children raised as male was higher than those of CAIS and CYP17A1 groups raised as female (p < 0.05). CSRI scale showed no statistical differences in the consistency of gender roles and reassigned gender between 46, XY DSD patients and control groups (p > 0.05). None of the patients over 8-year-old (n = 44) had gender dysphoria. Conclusion The reassigned gender in 46, XY DSD patients is consistent with their gender role during early childhood. None of them had gender dysphoria. The molecular diagnosis, gonadal function, and the gender reassignment are congruent within our Chinese cohort. Long-term follow-up and more evaluation are still required.

Psychiatry’s ethical involvement in gender-affirming care

2018 ◽  
Vol 26 (5) ◽  
pp. 460-463 ◽  
Author(s):  
Roberto D’Angelo
Keyword(s):  
Gender Dysphoria ◽  
Poor Quality ◽  
Medline Search ◽  
Gender Reassignment ◽  
The Subject ◽  
Poor Outcomes ◽  
Physical Treatments

Objective: To reflect on the role of psychiatry in authorising physical treatments for Gender Dysphoria and to examine the quality of evidence for gender-reassignment. Method: A Medline search was performed with the subject term “transsexualism” or “gender dysphoria” and “outcome” or “follow-up” in the title. Studies published from 2005 onwards reporting psychosocial outcomes were selected for review. Results: Most available evidence indicating positive outcomes for gender reassignment is of poor quality. The few studies with robust methodology suggest that some patients have poor outcomes and may be at risk of suicide. Conclusion: The author raises questions about the implications for ethical treatment of transgender individuals.

Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency: gender reassignment in early infancy

1986 ◽  
Vol 112 (2) ◽  
pp. 238-246 ◽  
Author(s):  
David J. Gross ◽  
Hedi Landau ◽  
Gertrude Kohn ◽  
Amicur Farkas ◽  
Eyas Elrayyes ◽  
...  
Keyword(s):  
Gender Role ◽  
Positive Family History ◽  
Hydroxysteroid Dehydrogenase ◽  
Male Gender ◽  
Skeletal Maturation ◽  
Height Velocity ◽  
Male Pseudohermaphroditism ◽  
Arab Population ◽  
Gender Reassignment ◽  
Male Gender Role

Abstract. Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase (17β-HSD) deficiency has a high prevalence within the Arab population of the Gaza strip and is characterised by marked virilization at puberty, leading in many cases to the spontaneous adoption of a male gender role. As a result of this, parents of 7 affected male infants (aged 1– 10 months) born with female phenotype requested early gender reassignment. Diagnosis was suspected in 5 on the basis of a positive family history, but confirmed in all cases by the finding of low to normal testosterone levels (30–184 ng/dl) with high Δ4-androstenedione levels (188–808 ng/dl), after hCG. Treatment with im testosterone oenanthate (25–50 mg/dose) was given in one to three 3-months courses and penile size was increased into the normal range without evoking a significant increase in height velocity or skeletal maturation. Five patients underwent the first stage of male genitoplasty between 2 and 3 years of age. This consisted of bilateral orchidopexy, chordee release and penile lengthening – yielding finally an anatomically normal-sized and shaped penis. Androgen responsive male pseudohermaphroditism due to 17β-HSD deficiency or a similar defect and diagnosed in infancy should be treated as soon as possible with systemic testosterone before considering any sex change, and in preparation for male genitoplasty. Early gender reassignment according to genetic and gonadal sex is probably the management of choice for these cases since this may result in a normal adjustment to the male gender role, particularly after puberty.

Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor

2018 ◽  
Vol 31 (2) ◽  
pp. 223-228 ◽  
Author(s):  
Rafael Loch Batista ◽  
Andresa De Santi Rodrigues ◽  
Aline Zamboni Machado ◽  
Mirian Yumie Nishi ◽  
Flávia Siqueira Cunha ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Gender Identity ◽  
Gender Role ◽  
Somatic Mosaicism ◽  
Disorders Of Sex Development ◽  
Androgen Insensitivity Syndrome ◽  
Gender Assignment ◽  
Allelic Variants ◽  
Androgen Insensitivity ◽  
And Gender

Abstract Background: Androgen insensitivity syndrome (AIS) is the most frequent etiology of 46,XY disorders of sex development (DSDs), and it is an X-linked disorder caused by mutations in the androgen receptor (AR) gene. AIS patients present a broad phenotypic spectrum and individuals with a partial phenotype present with different degrees of undervirilized external genitalia. There are more than 500 different AR gene allelic variants reported to be linked to AIS, but the presence of somatic mosaicisms has been rarely identified. In the presence of a wild-type AR gene, a significant degree of spontaneous virilization at puberty can be observed, and it could influence the gender assignment, genetic counseling and the clinical and psychological management of these patients and the psychosexual outcomes of these patients are not known. Case presentation: In this study, we report two patients with AR allelic variants in heterozygous (c.382G>T and c.1769-1G>C) causing a partial AIS (PAIS) phenotype. The first patient was raised as female and she had undergone a gonadectomy at puberty. In both patients there was congruency between gender of rearing and gender identity and gender role. Conclusions: Somatic mosaicism is rare in AIS and nonsense AR variant allelic can cause partial AIS phenotype in this situation. Despite the risk of virilization and prenatal androgen exposure, the gender identity and gender role was concordant with sex of rearing in both cases. A better testosterone response can be expected in male individuals and this should be considered in the clinical management.

Theoretical and Methodological Problems of a 10-Year Follow-Up Program Evaluation Study

2002 ◽  
Vol 18 (3) ◽  
pp. 229-241 ◽  
Author(s):  
Kurt A. Heller ◽  
Ralph Reimann
Keyword(s):  
Program Evaluation ◽  
Evaluation Studies ◽  
Evaluation Study ◽  
Control Groups ◽  
Cross Sectional ◽  
Long Term Study ◽  
Partial Inclusion ◽  
Methodological Problems

Summary In this paper, conceptual and methodological problems of school program evaluation are discussed. The data were collected in conjunction with a 10 year cross-sectional/longitudinal investigation with partial inclusion of control groups. The experiences and conclusions resulting from this long-term study are revealing not only from the vantage point of the scientific evaluation of new scholastic models, but are also valuable for program evaluation studies in general, particularly in the field of gifted education.

scholarly journals COVID-19 infection: epidemiological, clinical, and radiological expression among adult population

2020 ◽  
Vol 51 (1) ◽  
Author(s):  
Eman Ragab ◽  
Asrar Helal Mahrous ◽  
Ghadeer Maher El Sheikh
Keyword(s):  
Serum Ferritin ◽  
Clinical Laboratory ◽  
Adult Population ◽  
Significant Risk ◽  
High Serum ◽  
Male Gender ◽  
Lower Sensitivity ◽  
Significant Difference ◽  
D Dimer

Abstract Background High-resolution computed tomography (HRCT) has proved to be an important diagnostic tool throughout the COVID-19 pandemic outbreaks. Increasing number of the infected personnel and shortage of real-time transcriptase polymerase chain reaction (RT-PCR) as well as its lower sensitivity made the CT a backbone in diagnosis, assessment of severity, and follow-up of the cases. Results Two hundred forty patients were evaluated retrospectively for clinical, laboratory, and radiological expression in COVID-19 infection. One hundred eighty-six non-severe cases with home isolation and outpatient treatment and 54 severe cases needed hospitalization and oxygen support. Significant difference between both groups was encountered regarding the age, male gender, > 38° fever, dyspnea, chest pain, hypertension, ≤ 93 oxygen saturation, intensive care unit (ICU) admission, elevated D-dimer, high serum ferritin and troponin levels, and high CT-severity score (CT-SS) of the severe group. CT-SS showed a negative correlation with O2 saturation and patients’ outcome (r − 0.73/p 0.001 and r − 0.56/p 0.001, respectively). Bilateral peripherally distributed ground glass opacities (GGOs) were the commonest imaging feature similar to the literature. Conclusion Older age, male gender, smoking, hypertension, low O2 saturation, increased CT score, high serum ferritin, and high D-dimer level are the most significant risk factors for severe COVID-19 pneumonia. Follow-up of the recovered severe cases is recommended to depict possible post COVID-19 lung fibrosis.

Beyond biology: The importance of cultural factors in explaining gender disparities in STEM preferences

2021 ◽  
Vol 35 (1) ◽  
pp. 45-50
Author(s):  
Mona El-Hout ◽  
Alexandra Garr-Schultz ◽  
Sapna Cheryan
Keyword(s):  
Gender Differences ◽  
Gender Role ◽  
Computer Science ◽  
Cultural Factors ◽  
Male Gender ◽  
Cultural Factor ◽  
Gender Disparities ◽  
Policy Implications ◽  
Stem Fields ◽  
Male Gender Role

Gender disparities in participation in many STEM fields, particularly computer science, engineering, and physics, remain prevalent in Western societies. Stewart-Williams and Halsey contend that an important contributor to these disparities is gender differences in career-related preferences that are driven partly by biology. We argue that Stewart-Williams and Halsey understate the influence of cultural factors in shaping these preferences. We provide evidence for an important and overlooked cultural factor that contributes to gender disparities in computer science, engineering, and physics: masculine defaults. Masculine defaults exist when cultures value and reward traits and characteristics associated with the male gender role and see them as standard ( Cheryan & Markus, 2020 ). We provide examples of how changing computer science, engineering, and physics cultures can decrease gender disparities in participation. Finally, we discuss policy implications, specifically the importance of (1) recognizing that preferences for STEM are malleable and (2) addressing exclusionary cultures of STEM fields. Recognizing and changing exclusionary STEM cultures are important for creating a society that is more just and equitable.

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