- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT04903587
Gonadal Changes In Congenital Adrenal Hyperplasia Patients
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
Conditions
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
Enrollment (Anticipated)
Contacts and Locations
Study Contact
- Name: Hasnaa Hassan, post gradute
- Phone Number: 01000748134
- Email: dr.hmm28@gmail.com
Study Contact Backup
- Name: Mohamed Salah Elkholy, professor
- Phone Number: 01005838888
Study Locations
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Cairo, Egypt
- Recruiting
- Ain Shams University
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Contact:
- Hasnaa Hassan Mohammed
- Phone Number: 01000748134
- Email: dr.hmm28@gmail.com
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Contact:
- Rana Abdelhakim Ahmed
- Phone Number: 01115006946
- Email: dr.ranahakim@gmail.com
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
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
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
Sponsor
Publications and helpful links
General Publications
- Dumic M, Duspara V, Grubic Z, Oguic SK, Skrabic V, Kusec V. Testicular adrenal rest tumors in congenital adrenal hyperplasia-cross-sectional study of 51 Croatian male patients. Eur J Pediatr. 2017 Oct;176(10):1393-1404. doi: 10.1007/s00431-017-3008-7. Epub 2017 Sep 6.
- Chen HD, Huang LE, Zhong ZH, Su Z, Jiang H, Zeng J, Liu JC. Ovarian Adrenal Rest Tumors Undetected by Imaging Studies and Identified at Surgery in Three Females with Congenital Adrenal Hyperplasia Unresponsive to Increased Hormone Therapy Dosage. Endocr Pathol. 2017 Jun;28(2):146-151. doi: 10.1007/s12022-016-9461-4.
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Pathologic Processes
- Metabolic Diseases
- Endocrine System Diseases
- Gonadal Disorders
- Disorders of Sex Development
- Urogenital Abnormalities
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Metabolism, Inborn Errors
- Adrenal Gland Diseases
- Steroid Metabolism, Inborn Errors
- Hyperplasia
- Adrenal Hyperplasia, Congenital
- Adrenogenital Syndrome
- Adrenocortical Hyperfunction
Other Study ID Numbers
- US and MRI in CAH patients
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
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