Publications by authors named "Mahayu D Ariani"

Sexual quality of life is greatly influenced by sexual function, yet thorough measures remain limited and vary across regions. In Indonesia, diverse cultural and religious contexts notably shape sexual quality of life. Thus, it is important to have a tool that considers both internal and external aspects.

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Introduction: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) or 11-hydroxylase deficiency (11OHD) is characterized by underproduction of cortisol and overproduction of adrenal androgens. These androgens lead to a variable degree of virilization of the female external genitalia in 46,XX individuals. Especially in developing countries, diagnosis is often delayed and 46,XX patients might be assigned as males.

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Article Synopsis
  • A big team in Semarang, Indonesia, has been helping kids and adults with differences in sex development (DSD) for 17 years by looking at their medical records.
  • Out of 1,184 patients, most had 46,XY DSD, which means they have certain differences involving male characteristics, while others had 46,XX DSD related to female characteristics.
  • They used special gene testing to find out more about these conditions and discovered new genetic causes, helping better understand and treat these patients in the future.
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Macroadenoma is a tumor that typically develops in the epithelial cells of the pituitary gland. Patients suffering from the condition are often asymptomatic with complaints that are caused by hormonal imbalance. Therefore, chromosome analysis needs to be done to females aged >16 years presenting with amenorrhea.

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Article Synopsis
  • Congenital Adrenal Hyperplasia (CAH) is a rare condition that affects how the body makes hormones, leading to issues like low cortisol and high levels of certain other hormones.
  • People with CAH can have different body features, such as ambiguous genitalia, which makes it harder for doctors to decide on treatment and gender identity.
  • In the study, five family members with CAH didn't receive treatment and had varying views on gender, but they all faced health risks if they didn't get help.
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Objectives: To describe the phenotype variation in Indonesian 46,XX late-identified congenital adrenal hyperplasia (CAH) and the correlation between 17-hydroxyprogesterone (17-OHP) and genital virilization.

Methodology: Retrospective study of 39 cases with five salt-wasting (SW) and 34 simple virilizing (SV) types.

Results: The median age of the patients was 9.

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Objective: The objective of this study was to determine the aetiological spectrum of disorders of sex development (DSD) in a large cohort of underprivileged and undiagnosed patients from Indonesia.

Methods: A total of 286 patients with atypical external and/or internal genitalia were evaluated using clinical, hormonal, molecular genetic and histological parameters.

Results: The age (years) at presentation was 0-0·5 in 41 (14·3%), >0·5-12 in 181 (63·3%) and >12 in 64 cases (22·4%).

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