Hatena::ブログ(Diary)

資料倉庫

2018-10-18

Sexual orientation of 46, XX patients with congenital adrenal hyperplasia: a descriptive review.

J Pediatr Urol. 2018 Sep 19. pii: S1477-5131(18)30437-6. doi: 10.1016/j.jpurol.2018.08.004. [Epub ahead of print]

Sexual orientation of 46, XX patients with congenital adrenal hyperplasia: a descriptive review.

Gondim R1, Teles F1, Barroso U Jr2.

Author information ブラジル

Abstract

BACKGROUND:

Congenital adrenal hyperplasia (CAH) consists of a group of diseases characterized by an enzyme deficiency, particularly 21-hydroxylase deficiency. The condition may present in the simple virilizing form or in the salt-wasting form, with varying degrees of genital ambiguity. The non-heterosexual orientation is used in gender studies fields and includes bisexual, homosexual, Lesbians, gays, bissexuals, transgender, intersex, and others.

OBJECTIVE:

The objective of this study was to evaluate the frequency of non-heterosexual orientation in patients with CAH, in an attempt to identify biological factors possibly associated with this occurrence.

METHODS:

This was a descriptive review of observational studies on the sexual orientation of patients with CAH published between 1985 and 2016, as listed in PubMed.

RESULTS:

Various studies have been performed to establish the relationship between CAH and non-heterosexual orientation. Non-heterosexual orientation is more prevalent in patients with more advanced Prader stages and those with the null and I2-splice genotype.

CONCLUSION:

The prevalence of homosexuality and bisexuality is greater in patients with CAH in relation to the general population.

Copyright © 2018 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.


KEYWORDS:
Congenital adrenal hyperplasia; Prader; Sexual orientation

2018-10-08

Gender Identity and Sexual Function in 46,XX Patients with Congenital Adrenal Hyperplasia Raised as Males.

Arch Sex Behav. 2018 Oct 5. doi: 10.1007/s10508-018-1299-z. [Epub ahead of print]

Gender Identity and Sexual Function in 46,XX Patients with Congenital Adrenal Hyperplasia Raised as Males.

Apóstolos RAC1,2, Canguçu-Campinho AK1, Lago R1, Costa ACS2, Oliveira LMB1, Toralles MB1, Barroso U Jr3,4.

Author information ブラジル


Abstract

In individuals with congenital adrenal hyperplasia (CAH) and 46,XX karyotype, androgens produced by the adrenal glands during the intrauterine development promote virilization of the genitals, which may even result in the development of a well-formed penis. Some of these children with late diagnosis are registered as males after birth. After obtaining approval from the internal review board, we evaluated gender identity and sexual function in four 46,XX severely virilized patients with CAH, who were originally registered and raised as males, assisted in our Disorders of Sexual Development Clinic. The evaluation consisted of questionnaires to assess gender identity and sexual activity and interview with the multidisciplinary team that provides care for these patients. The patients underwent surgery to remove uterus, ovaries, and remaining vaginal structures, in addition to implantation of testicular prosthesis and correction of hypospadias, when necessary. All four patients have developed a clear male gender identity, and when evaluated for sexual activity, they have reported having erections, libido, orgasms, and sexual attraction to women only. Two of these 4 patients had satisfactory sexual intercourses when assessed using the International Index of Erectile Function questionnaire. The other two patients who never had sexual intercourse reported not having a partner for sexual activity; one is 18 years old, and the other is 14 years old. This study showed that this group of 46,XX severely virilized patients with CAH, registered and raised as males, adapted well to the assigned male gender, with satisfactory sexual function in patients who had sexual intercourse.


KEYWORDS:

Congenital adrenal hyperplasia; Disorders of sex development; Gender identity; Intersex

2018-09-30

The Role of Patient Advocacy and the Declining Rate of Clitoroplasty in 46,XX Patients With Congenital Adrenal Hyperplasia.

Clin Pediatr (Phila). 2018 Sep 27:9922818803407. doi: 10.1177/0009922818803407. [Epub ahead of print]

The Role of Patient Advocacy and the Declining Rate of Clitoroplasty in 46,XX Patients With Congenital Adrenal Hyperplasia.

Schoer MB1, Nguyen PN1, Merritt DF1, Wesevich VG1, Hollander AS1.

Author information
1 Washington University, St Louis, MO, USA.

Abstract

Prior to the 1990s, most 46,XX infants with clitoromegaly secondary to congenital adrenal hyperplasia were treated with feminizing genitoplasty to make their cosmetic appearance congruent with their genotypic sex. A 2006 consensus statement for the management of intersex disorders accepted input from patient advocates and did not support purely cosmetic surgery for clitoromegaly. This study examined the extent to which the desired change was implemented in practice. Retrospective chart review was performed at a single Midwestern tertiary care medical center for patients born between 1979 and 2013. Of 45 virilized patients, 40 had clitoromegaly and 39 had urogenital sinus or posterior labial fusion. Twenty-seven (67.5%) patients underwent clitoroplasty and 33 (84.6%) underwent perineoplasty, including vaginoplasty, urethroplasty, imperforate vagina repair, and/or posterior labial fusion repair. There was a linear decline in the rate of clitoroplasty over time for the patient cohort. This study demonstrates the power of patient advocacy to improve medical practice.


KEYWORDS:
CAH; advocacy; clitoromegaly; clitoroplasty; congenital adrenal hyperplasia; infants

2018-09-21

Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan.

Horm Res Paediatr. 2018;89(3):166-171. doi: 10.1159/000486393. Epub 2018 Feb 16.

Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan.

Ishii T1,2, Adachi M1,3, Takasawa K1,4, Okada S1,5, Kamasaki H1,6, Kubota T1,7, Kobayashi H1,8, Sawada H1,9, Nagasaki K1,10, Numakura C1,11, Harada S1,12, Minamitani K1,13, Sugihara S1,14, Tajima T1,15.

Author information

1The Committee on Mass Screening, Japanese Society for Pediatric Endocrinology, Kyoto, Japan.
2Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
3Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Yokohama, Japan.
4Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
5Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
6Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan.
7Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
8Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan.
9Department of Reproductive and Developmental Medicine, University of Miyazaki, Miyazaki, Japan.
10Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
11Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
12Department of Child Studies, Seitoku University, Matsudo, Japan.
13Department of Pediatrics, Teikyo University Chiba Medical Center, Chiba, Japan.
14Department of Pediatrics, Tokyo Women's Medical University Medical Center East, Tokyo, Japan.
15Department of Pediatrics, Jichi Medical University Tochigi Childrens Medical Center, Shimotsuke, Japan.

Abstract

BACKGROUND/AIMS:

We aimed to evaluate the incidence and characteristics of adrenal crisis in Japanese children with 21-hydroxylase deficiency (21-OHD).

METHODS:

We conducted a retrospective nationwide survey for the councilors of the Japanese Society for Pediatric Endocrinology (JSPE) regarding adrenal crisis in children under 7 years with 21-OHD, admitted to hospitals from 2011 through 2016. We defined adrenal crisis as the acute impairment of general health due to glucocorticoid deficiency with at least two of symptoms, signs, or biochemical abnormalities.

RESULTS:

The councilors of the JSPE in 83 institutions responded to this survey (response rate, 60.1%). Data analyses of 378 patients with 1,101.4 person-years (PYs) revealed that 67 patients (17.7%) experienced at least 1 episode of hospital admission for adrenal crisis at the median age of 2 years. The incidence of adrenal crisis was calculated as 10.9 per 100 PYs (95% confidence interval [CI] 9.6-12.2). Infections were the most common precipitating factors, while no factor was observed in 12.5%. Hypoglycemia occurred concomitantly in 27.4%. One patient died from severe hypoglycemia, resulting in a mortality rate of 0.09 per 100 PYs (95% CI 0.0-0.2).

CONCLUSION:

Adrenal crisis is not rare and can be accompanied by disastrous hypoglycemia in children with 21-OHD.

© 2018 S. Karger AG, Basel.

KEYWORDS:
21-Hydroxylase deficiency; Adrenal crisis; Children; Congenital adrenal hyperplasia; Japan

2018-09-12

Communication about Congenital Adrenal Hyperplasia: Perspective of Filipino Families.

J Genet Couns. 2017 Aug;26(4):763-775. doi: 10.1007/s10897-016-0043-x. Epub 2016 Nov 10.

Communication about Congenital Adrenal Hyperplasia: Perspective of Filipino Families.

Abad PJB1,2, Anonuevo CA3, Daack-Hirsch S4, Abad LR5, Padilla CD5,6, Laurino MY5,7.

Author information US・フィリピン共同

Abstract

Congenital adrenal hyperplasia (CAH), like other genetic conditions, is a relational disease from both the biological and psychosocial perspectives since the diagnosis gives rise to a variety of health, reproductive, and psychosocial implications. It is in these contexts that family communication of genetic information is important to study. Hence, this research aimed to explore genetic information communication in Filipino families affected with CAH. Using a qualitative descriptive design, families with a child affected with CAH were recruited through the CAH parent support group and were interviewed. Semi-structured interviews explored flow and content of genetic information communicated, the meanings the families attach to the communicated information, and the motivating and hindering factors in communication. Thematic analysis was used to analyze the findings. A total of five families participated, which included 11 individuals. Findings revealed that the diagnosis of CAH is not kept secret and it is openly shared with the family. The decision to communicate is influenced by several factors including the family's desire to seek further information about their family history. Initially, the focus of the communicated information is on the health implications and while communication about genetics occurs, this is almost always confined to the immediate family. The mother and grandmother serve as primary communicators in the family. The families have limited understanding of CAH especially its genetic implications including recurrence risk and carrier status. The findings can guide genetic counselors in supporting families in communicating information about CAH with the rest of the family.


KEYWORDS:

Autosomal recessive conditions; Congenital adrenal hyperplasia; Family communication; Genetic counseling; Philippines