Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanIsolated thyroid-stimulating hormone deficiency
ORPHA:90674Disease
Also called Isolated TSH deficiency · Isolated thyrotropin deficiency
What it is
A type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Signs and symptoms
Very common80–99%
7Common30–79%
26- Abnormality of epiphysis morphology
- Constipation
- Delayed cranial suture closure
- Delayed proximal femoral epiphyseal ossification
- Delayed skeletal maturation
- Depressed nasal bridge
- Dry skin
- Facial edema
- Failure to thrive
- Fatigue
- Feeding difficulties in infancy
- Growth delay
- Hoarse cry
- Hoarse voice
- Hypercholesterolemia
- Hyporeflexia
- Hypothermia
- Increased circulating prolactin concentration
- Large posterior fontanelle
- Large sella turcica
- Macroglossia
- Macroorchidism
- Neonatal hyperbilirubinemia
- Neurodevelopmental delay
- Prolonged neonatal jaundice
- Umbilical hernia
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.