Effects of Adrenal Androgens on Gender-typed Behavior in Girls With Turner Syndrome

Completed

• Conditions: Turner Syndrome
• Interventions: Diagnostic Test: the correlation between level of adrenal androgen and gender-typed behavior in Girls with TS

• Registration Number: NCT05346159
• Lead Sponsor: Sohag University

Brief Summary

Turner syndrome (TS) is a genetic disorder in which there is loss of all or part of the second X chromosome and occurs in 1/2500 live female births. TS is characterized by short stature and endocrine abnormalities, such as the loss of ovarian function (Gonadal dysgenesis) and estrogen deficiency.

The absence of pubertal development is one of the most common clinical features of patients with TS, who should have experienced a sex hormone surge if the hypothalamic-pituitary-gonadal axis was activated normally . Gonadarche and adrenarche are regarded as processes that are independent of each other. The function of adrenal gland is independent of true (central/complete/gonadotropin- dependent) puberty . Adrenal androgen in Turner syndrome shows a wide spectrum, ranging from normal to highly elevated.

X-linked genes affect the brain in at least two ways: by directly acting on the brain and by indirectly acting on the gonads to induce differences in specific gonadal secretions (i.e., hormones) that have specific effects on brain development. The changes in brain and behavioral/ cognitive phenotypes in TS individuals may be the result of a direct genetic factor, an indirect hormonal factor, or a combination of the two factors .

To evaluate direct effect of X chromosome, a lot of neuroimaging studies have revealed both neuroanatomical and neurofunctional changes in patients with TS. S. C. Mueller (2013) reported that oestrogen deficiency exhibits paradoxical healthy male-like patterns (i.e., a larger amygdala but reduced hippocampal volume). This finding confirms the indirect hormonal effect on the brain that are likely attributed to the effect of androgen on the brain or may be due to active role of estrogen in feminization of brain .

The cognitive phenotypes of TS include severe deficits in multiple cognitive domains: visual-spatial ability, mathematical processing, and social cognition. Regarding intelligence, numerous TS studies have a lower performance IQ in contrast to a within-normal verbal IQ in TS individuals .

The presence of hypogonadism with normal or may be elevated adrenal function in girls with turner syndrome provide a model to study the hormonal effect of adrenal androgen in absence of estrogen on gender-role behavior. Ehrhardt et al (1970) reported that Women with TS are described as clearly feminine in their behavior and interests .

To the best of our knowledge, there have been no previous studies on the correlation between level of adrenal androgen and gender-typed behavior in Girls with TS.

Detailed Description

Not available

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study First Submitted: 2022-04-17
• Study First Submitted QC: 2022-04-25
• Study First Posted: 2022-04-26
• Study Start: 2022-05-01
• Primary Completion: 2023-05-31
• Study Completion: 2023-05-31
• Status Verified: 2023-06
• Last Update Submitted: 2023-06-12
• Last Update Posted: 2023-06-15

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Female
• Target Recruitment: 78

Inclusion Criteria

• Girls with turner syndrome (TS) (karyotype 45, X) younger than 18 years of age and Tanner stage matched healthy control girls with normal karyotype attending outpatient clinic at Sohag University Hospital will be included in the study.

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Exclusion Criteria

• failure to obtain informed consent

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
turner syndrome group	the correlation between level of adrenal androgen and gender-typed behavior in Girls with TS	-
control group	the correlation between level of adrenal androgen and gender-typed behavior in Girls with TS	-

Primary Outcome Measures

Name	Time	Method
estradiol (E2)	Baseline	to access ovarian function
luteinizing hormone (LH)	Baseline	to access ovarian function
Gender-typed behavior The Children's Sex Role Inventory	Baseline	we will measure children's gender-typed behavior using The Children's Sex Role Inventory
Parent-Report Gender Identity Questionnaire	Baseline	we will measure children's gender-typed behavior using the Parent-Report Gender Identity Questionnaire
Serum dehydroepiandrosterone sulfate (DHEAS)	Baseline	we use DHEAS level to access adrenal function
follicle stimulating hormone (FSH)	Baseline	to access ovarian function
Gender-typed behavior	Baseline	we will measure children's gender-typed behavior using the Pre school Activities Inventory

Trial Locations

Locations (1)

Sohag University Hospital; 🇪🇬 Sohag, Egypt