Clinical and Genetic Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis.

NCT01916018 | Completed

• 1 other identifier: P11012-IDRCB 2012-A00797-36
• Study Type: interventional
• Target: 558
• Locations: 1 country
• Sites: 1

Brief Summary

Congenital hypothyroidism (CH) is a rare disease that affects 1 in 3500 newborn. This condition is detected consistently since the late 1970s in France, which has led to early care and a significant improvement in prognosis and intellectual stature of these children. However neurodevelopmental disorders persist in 10-15% of cases. More associated diseases have been reported in approximately 10% of cases. These observations are in most cases poorly understood. The family nature of the CH is now well recognized and a dozen genes involved up to now. However, in the majority of cases (HC not due to a disorder of the organification of iodine), few mutations have been found in the reported number of patients (5-10%), suggesting the involvement of other genes. Some of the genes have been implicated in particular specific syndromic forms but many pathological associations remain unexplained. Also, a more complete genetic elucidation of CH would enable a better understanding of its etiology and thus its risk of familial recurrence (frequently asked questions by parents of children with CH) and secondly the presence of associated pathologies. Main goal: to describe the population with CH (not due to a disorder of the organification of iodine) not only on clinical, biological and radiological (phenotypic analysis) but also on the genetic level to establish a genotype / phenotype correlation.

Conditions

Congenital Hypothyroidism

Keywords

Congenital hypothyroidism; Thyroid dysgenesis; Genetics; Associated malformations; Psychomotor delay; Mental retardation

Outcome Measures

Primary Outcomes (4)

• etiological type of the congenital hypothyroidism

  Etiological Type of the congenital hypothyroidism: athyreosis, ectopia, hémiagenesis, hypoplastic gland in place of normal shape and size

  2 years

• Presence and type of cytogenetic and / or genetic abnormality associated with HC

  2 years

• Presence and type of pathology associated with HC

  2 years

• Presence of abnormal neuropsychological (including delayed psychomotor development)

  2 years

Secondary Outcomes (2)

• time to treatment of hypothyroidism

  2 years

• Presence of a prenatal and / or neonatal complication

  2 years

Study Arms (1)

hypothyroid group

OTHER

Clinical exams radiologic exams Blood sample

Other: Clinical and radiologic exams and blood samples

Interventions

Clinical and radiologic exams and blood samples OTHER

hypothyroid group

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• \- Patient: newborn (0-27 days) or infant (28 days 23 months), or child or adult with congenital hypothyroidism (that is to say with a TSH \> 15 mU / ml at screening on filter paper and / or plasma TSH\> 10 mU / ml) diagnosed in the first months of life, whatever their age, sex, weight and size.
• Subjects with blood levels of free thyroid hormones (FT3 and FT4) in the standards will be described as having subclinical hypothyroidism.
• If treatment with L-thyroxine could be stopped without relapse (that is to say, always with a TSH \<5 mU / ml with different controls), hypothyroidism is said to be transient, whatever the age of discontinuation of treatment.
• No pre or neonatal goitre by palpation or ultrasound thyroid
• negative perchlorate test (ie decreased rate of iodine captation \<10% at 2h injection of perchlorate) when the thyroid gland in place
• No self-immunity known to thyroid in children with and / or his mother (defined by a antithyroperoxidase antibodies and / or antithyroglobulin)
• Signature of free and informed consent by the patient or his legal representative
• Affiliation or enjoying a social security system

You may not qualify if:

• Presence of markers antithyroid autoimmunity in children and / or mother (antithyroperoxidase antibodies and / or antithyroglobulin)
• Pre or neonatal goiter on palpation or ultrasound thyroid
• Test positive perchlorate (ie salting rate of iodine\> 10% at 2 injection perchlorate)
• Patients of foreign origin returned to their country will be excluded from the study.

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• URC-CIC Paris Descartes Necker Cochin: collaborator

Study Sites (1)

Pediatric endocrinology gynecology and diabetology, Hôpital Necker Enfants Malades, Assistance Publique - Hôpitaux de Paris , Université Paris Descartes, INSERM unit U 845

Paris, 75015, France

Location

Related Publications (3)

• Stoupa A, Adam F, Kariyawasam D, Strassel C, Gawade S, Szinnai G, Kauskot A, Lasne D, Janke C, Natarajan K, Schmitt A, Bole-Feysot C, Nitschke P, Leger J, Jabot-Hanin F, Tores F, Michel A, Munnich A, Besmond C, Scharfmann R, Lanza F, Borgel D, Polak M, Carre A. TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology. EMBO Mol Med. 2018 Dec;10(12):e9569. doi: 10.15252/emmm.201809569.

  PMID: 30446499 BACKGROUND

• Carre A, Stoupa A, Kariyawasam D, Gueriouz M, Ramond C, Monus T, Leger J, Gaujoux S, Sebag F, Glaser N, Zenaty D, Nitschke P, Bole-Feysot C, Hubert L, Lyonnet S, Scharfmann R, Munnich A, Besmond C, Taylor W, Polak M. Mutations in BOREALIN cause thyroid dysgenesis. Hum Mol Genet. 2017 Feb 1;26(3):599-610. doi: 10.1093/hmg/ddw419.

  PMID: 28025328 BACKGROUND

• Stoupa A, Kariyawasam D, Nguyen Quoc A, Polak M, Carre A. Approach to the Patient With Congenital Hypothyroidism. J Clin Endocrinol Metab. 2022 Nov 25;107(12):3418-3427. doi: 10.1210/clinem/dgac534.

  PMID: 36107810 DERIVED

MeSH Terms

Conditions

Congenital Hypothyroidism; Thyroid Dysgenesis; Learning Disabilities; Intellectual Disability

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Dwarfism; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Bone Diseases, Endocrine; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Hypothyroidism; Thyroid Diseases; Congenital Abnormalities; Communication Disorders; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurodevelopmental Disorders; Mental Disorders

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 2, 2013
• First Posted: August 5, 2013
• Study Start: September 17, 2013
• Primary Completion: March 17, 2017
• Study Completion: March 17, 2017
• Last Updated: September 8, 2025

Record last verified: 2025-09

Locations

FR (1)