Syndromes With Neonatal Salt Loss: Not Only Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency (21OH-ISC)

NCT07473804 | Recruiting

• 1 other identifier: SW2024
• Study Type: observational
• Target: 25
• Locations: 1 country
• Sites: 1

Brief Summary

Neonatal salt loss can be caused not only by infections but also by rare endocrine disorders that resemble 21-hydroxylase deficiency but are not detected by neonatal screening. This study examines how often these conditions occur and describes their main clinical, genetic, and treatment features.

Conditions

Neonatal Salt Loss; Congenital Adrenal Hyperplasia (CAH)

Outcome Measures

Primary Outcomes (1)

• Measurement of the frequency of the different endocrine causes of salt loss not due to 21-hydroxylase-deficient CAH.

  Percentage of different endocrine causes of salt loss (%)

  at baseline

Eligibility Criteria

• Age: 1 Year - 35 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

All patients of both sexes born between January 1989 and December 2023 who presented with salt-loss syndrome within the first two months of life due to an endocrine cause other than 21-hydroxylase-deficient CAH, and who were evaluated at the Pediatric Unit, Pediatric Endocrinology and Metabolic Diseases Program of the IRCCS AOUBO.

You may qualify if:

• Patients with a diagnosis of endocrine-related salt loss, defined by laboratory findings of hyponatremia (serum sodium \<130 mEq/L)
• Age at onset of salt loss between 0 and 60 days of life
• Patients born between January 1, 1989 and December 31, 2023 and managed at the Experimental Center
• Obtained Informed consent

You may not qualify if:

• Diagnosis of 21OH ISC

Sponsors & Collaborators

• IRCCS Azienda Ospedaliero-Universitaria di Bologna: lead

Study Sites (1)

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Bologna, 40138, Italy

RECRUITING

MeSH Terms

Conditions

Adrenal Hyperplasia, Congenital

Condition Hierarchy (Ancestors)

Adrenogenital Syndrome; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Steroid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Adrenal Gland Diseases; Endocrine System Diseases; Gonadal Disorders

Central Study Contacts

Federico Baronio

CONTACT

00390512144816; federico.baronio@aosp.bo.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD

Study Record Dates

• First Submitted: March 11, 2026
• First Posted: March 16, 2026
• Study Start: April 14, 2025
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): December 31, 2026
• Last Updated: March 16, 2026

Record last verified: 2025-12

Locations

IT (1)