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

This study is ongoing, but not recruiting participants.
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris Identifier:
First received: August 2, 2013
Last updated: August 25, 2016
Last verified: August 2016

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.

Condition Intervention
Congenital Hypothyroidism Other: Clinical and radiologic exams and blood samples

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Phenotype and Genotype Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis. The Use of Genetic Analysis in the Early Care of Children With Thyroid Dysgenesis

Resource links provided by NLM:

Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • etiological type of the congenital hypothyroidism [ Time Frame: 2 years ]
    Etiological Type of the congenital hypothyroidism: athyreosis, ectopia, hémiagenesis, hypoplastic gland in place of normal shape and size

  • Presence and type of cytogenetic and / or genetic abnormality associated with HC [ Time Frame: 2 years ]
  • Presence and type of pathology associated with HC [ Time Frame: 2 years ]
  • Presence of abnormal neuropsychological (including delayed psychomotor development) [ Time Frame: 2 years ]

Secondary Outcome Measures:
  • time to treatment of hypothyroidism [ Time Frame: 2 years ]
    Optimization of the treatment of hypothyroidism: normalization period of TSH and T4, TSH number of> 15 mU / ml during follow-up, adherence

  • Presence of a prenatal and / or neonatal complication [ Time Frame: 2 years ]

Enrollment: 558
Study Start Date: May 2013
Estimated Study Completion Date: September 2017
Estimated Primary Completion Date: March 2017 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
hypothyroid group
Clinical exams radiologic exams Blood sample
Other: Clinical and radiologic exams and blood samples

  Show Detailed Description


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

- 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

Exclusion Criteria:

  • 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.
  Contacts and Locations
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Please refer to this study by its identifier: NCT01916018

Pediatric endocrinology gynecology and diabetology, Hôpital Necker Enfants Malades, Assistance Publique - Hôpitaux de Paris , Université Paris Descartes, INSERM unit U 845
Paris, France, 75015
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
  More Information

Responsible Party: Assistance Publique - Hôpitaux de Paris Identifier: NCT01916018     History of Changes
Other Study ID Numbers: P11012-IDRCB 2012-A00797-36
Study First Received: August 2, 2013
Last Updated: August 25, 2016

Keywords provided by Assistance Publique - Hôpitaux de Paris:
Congenital hypothyroidism
Thyroid dysgenesis
Associated malformations
Psychomotor delay
Mental retardation

Additional relevant MeSH terms:
Congenital Hypothyroidism
Thyroid Diseases
Congenital Abnormalities
Thyroid Dysgenesis
Endocrine System Diseases
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Bone Diseases, Endocrine
Genetic Diseases, Inborn processed this record on September 21, 2017