Isolated thyroid-stimulating hormone deficiency
ORPHA:90674DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)42
Очень частый (80–99%)7
HP:0005990Thyroid hypoplasia
HP:0008245Pituitary hypothyroidism
HP:0025483Abnormal circulating thyroglobulin concentration
HP:0031098Decreased thyroid-stimulating hormone level
HP:0031208Increased pituitary glycoprotein hormone alpha subunit level
HP:0031219Reduced radioactive iodine uptake
HP:0031507Decreased circulating thyroxine level
Частый (30–79%)26
HP:0000053Macroorchidism
HP:0000158Macroglossia
HP:0000270Delayed cranial suture closure
HP:0000282Facial edema
HP:0000870Increased circulating prolactin concentration
HP:0000958Dry skin
HP:0001265Hyporeflexia
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001537Umbilical hernia
HP:0001609Hoarse voice
HP:0001615Hoarse cry
HP:0002019Constipation
HP:0002045Hypothermia
HP:0002690Large sella turcica
HP:0002750Delayed skeletal maturation
HP:0003124Hypercholesterolemia
HP:0003265Neonatal hyperbilirubinemia
HP:0004491Large posterior fontanelle
HP:0005280Depressed nasal bridge
HP:0005930Abnormality of epiphysis morphology
HP:0006579Prolonged neonatal jaundice
HP:0008828Delayed proximal femoral epiphyseal ossification
HP:0008872Feeding difficulties in infancy
HP:0012378Fatigue
HP:0012758Neurodevelopmental delay
Периодический (5–29%)5
HP:0001252Hypotonia
HP:0001254Lethargy
HP:0001662Bradycardia
HP:0002312Clumsiness
HP:0007018Attention deficit hyperactivity disorder
Очень редкий (1–4%)2
HP:0000716Depression
HP:0000853Goiter
Исключён (0%)2
HP:0011437Maternal autoimmune disease
HP:0030057Autoimmune antibody positivity
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)