Gonadal Changes In Congenital Adrenal Hyperplasia Patients

December 10, 2021 updated by: Ain Shams University

The Prevalence Of Gonadal Changes In Patients With Congenital Adrenal Hyperplasia

To detect the prevalence of gonadal changes by US among the patients with CAH.

  • assess the patients' radiological findings in relation to their hormonal profile.
  • early management and prevention of complications resulting from possible gonadal dysfunction.

Study Overview

Status

Recruiting

Intervention / Treatment

Detailed Description

Several factors contribute to the impaired fertility in CAH patients, such as androgen excess, adrenal progesterone hypersecretion and adrenal rest tumours (ARTs). ARTs are derived from ectopic adrenal cells that migrated to the gonads in foetal life, and their growth is under control of adrenocorticotropic hormone (ACTH) and angiotensin II .

The common cause of infertility in males with CAH is testicular adrenal rest tumours (TARTs) , which have been well documented in CAH male patients, with an incidence up to 94%. They could be easily imaged by US and MRI studies. TARTs are associated with the risk of seminal duct obstruction, leading to azoospermia and permanent damage of the surrounding testicular tissue. TARTs can present as single nodules , and as multiple nodules in 16% of patients. Increasing the dosage of hormone therapy can cause early TARTs lesions to shrink or completely resolve, while advanced lesions may require surgical removal .

High prevalence of impaired fertility is not restricted to men; as it was reported also in women with CAH. Androgen excess is usually implicated in girls and women with CAH for whom medical treatment is unavailable or who are noncompliant with their therapy . Adrenal androgens act either directly or through the dysfunction caused at the hypothalamic pituitary axis. Interestingly, ovarian hyperandrogenism could occur even when CAH is well controlled on glucocorticoid therapy .

Females with CAH may become infertile for several reasons, such as chronic anovulation, which was demonstrated in up to 50% of the patients with non-classic CAH . Bilateral enlarged ovaries, bilateral ovarian cysts, and ovarian adrenal rest tumour (OART) may also occur and can be detected by US. OART impairs ovarian function in CAH females by displacing normal ovarian tissue and by locally producing steroids, which interfere with normal ovarian function. It should be considered when ovarian masses are detected. If detected early enough and glucocorticoid therapy is received, it is possible that it will decrease in size following suppression of ACTH levels. Polycystic ovary syndrome (PCOS) is another common condition associated with hyperandrogenism. The prevalence of PCOS is increased in women with both classical and non-classical CAH. The association of CAH with ultrasonically detected PCOS was confirmed in 83%, 40% and 3% of the adult patients, postpubertal girls and pre and peripubertal girls respectively .

Under treatment of ARTs, PCOS and other gonadal comorbidities negatively influences the quality of life as well as sexual outcomes in patients with CAH. Besides, recognizing these conditions and identifying characteristic US features of gonadal dysfunction is important, so as to avoid misdiagnosing them as malignancies, which can lead to unnecessary interventions.

Study Type

Observational

Enrollment (Anticipated)

50

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

  • Name: Mohamed Salah Elkholy, professor
  • Phone Number: 01005838888

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

5 years to 16 years (Child)

Accepts Healthy Volunteers

N/A

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

all patients diagnosed with congenital adrenal hyperplasia (CAH)

Description

Inclusion Criteria:

  • All patients diagnosed with CAH between five and 16 years of age will be asked to participate in this cross sectional study.
  • Compliant patients with regular follow up.

Exclusion Criteria:

  • Presence of other endocrinal diseases or chronic conditions.
  • Female patients with ovulatory dysfunction from other causes including thyroid dysfunction and hyperprolactinemia.
  • Male patients with other diseases causing impairment of gonadal capacity.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Cross-Sectional

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
prevalence of gonadal changes in CAH patients
Time Frame: baseline
By using US and MRI to detect the finding in gonades in CAH patients
baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 1, 2021

Primary Completion (Anticipated)

October 1, 2022

Study Completion (Anticipated)

November 1, 2022

Study Registration Dates

First Submitted

May 23, 2021

First Submitted That Met QC Criteria

May 23, 2021

First Posted (Actual)

May 26, 2021

Study Record Updates

Last Update Posted (Actual)

December 30, 2021

Last Update Submitted That Met QC Criteria

December 10, 2021

Last Verified

May 1, 2021

More Information

Terms related to this study

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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