Overview
This entry, formerly listed in Orphanet as 'Disorder in the hormonal synthesis with or without goiter' (Orphanet code 872), is now considered an obsolete classification. It was used as a broad umbrella term to describe a group of rare inherited conditions where the thyroid gland cannot make thyroid hormones properly. This is sometimes called 'dyshormonogenesis' or 'congenital hypothyroidism due to a defect in thyroid hormone synthesis.' The thyroid gland sits in the front of the neck and produces hormones that control metabolism, growth, and brain development. When the body cannot make these hormones correctly, it may try to compensate by enlarging the thyroid gland, forming what is called a goiter. Symptoms can include tiredness, slow growth, intellectual disability if untreated from birth, constipation, dry skin, and a swollen neck. Today, these conditions are better classified by their specific genetic cause — for example, defects in genes like TPO, TG, DUOX2, or SLC5A5. Treatment with thyroid hormone replacement (levothyroxine) is effective and widely available. Early diagnosis through newborn screening is critical to prevent serious developmental problems.
Key symptoms:
Enlarged thyroid gland in the neck (goiter)Extreme tiredness and low energySlow growth and short stature in childrenIntellectual disability or developmental delays if untreatedConstipationDry, pale, or puffy skinFeeling cold all the timeSlow heart rateHoarse voice or cry in babiesPoor feeding in newbornsProlonged newborn jaundice (yellowing of the skin)Muscle weaknessDelayed puberty
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Disorder in the hormonal synthesis with or without goiter.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Disorder in the hormonal synthesis with or without goiter.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to OBSOLETE: Disorder in the hormonal synthesis with or without goiter.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific gene is causing this condition in my child or myself, and what does that mean for our family?,How often do we need blood tests to check thyroid hormone levels, and what levels are we aiming for?,Are there any foods, supplements, or medications that can interfere with levothyroxine absorption?,What signs should I watch for that might mean the dose needs to be adjusted?,What is the risk that other children in our family could have the same condition?,Will my child need any other specialists, such as a developmental pediatrician or speech therapist?,Is there any research or clinical trial I should know about for this specific genetic cause?
Common questions about OBSOLETE: Disorder in the hormonal synthesis with or without goiter
What is OBSOLETE: Disorder in the hormonal synthesis with or without goiter?
This entry, formerly listed in Orphanet as 'Disorder in the hormonal synthesis with or without goiter' (Orphanet code 872), is now considered an obsolete classification. It was used as a broad umbrella term to describe a group of rare inherited conditions where the thyroid gland cannot make thyroid hormones properly. This is sometimes called 'dyshormonogenesis' or 'congenital hypothyroidism due to a defect in thyroid hormone synthesis.' The thyroid gland sits in the front of the neck and produces hormones that control metabolism, growth, and brain development. When the body cannot make these h
How is OBSOLETE: Disorder in the hormonal synthesis with or without goiter inherited?
OBSOLETE: Disorder in the hormonal synthesis with or without goiter follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Disorder in the hormonal synthesis with or without goiter typically begin?
Typical onset of OBSOLETE: Disorder in the hormonal synthesis with or without goiter is neonatal. Age of onset can vary across affected individuals.