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Feingold KR, Anawalt B, Blackman MR, et al., editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-.
| Thyroid alteration | Thyroid morphology | Gene | Clinical manifestations |
|---|---|---|---|
| Central hypothyroidism | No goiter | LHX3 and LHX4 | Hypothyroidism, combined pituitary hormone deficiency, short stature, metabolic disorders, reproductive system deficits, nervous system developmental abnormalities |
| HESX1 | Hypothyroidism, septo-optic dysplasia (SOD): hypoplasia of the optic nerves, various types of forebrain defects, multiple pituitary hormone deficiencies | ||
| TRH and TRHR | Hypothyroidism, short stature | ||
| IGSF1 | Hypothyroidism, prolactin deficiency, macroorchidism, delayed puberty, neurological symptoms | ||
| TBLX1 | Congenital hypothyroidism and hearing defects | ||
| Thyroid dysgenesis | Athyreosis | PAX8 | No goiter, severe hypthyroidism |
| NKX2-5 | No goiter, severe hypothyroidism, no cardiac alterations | ||
| FOXE1 | Severe hypothyroidism, Bamforth-Lazarus syndrome | ||
| Thyroid ectopy | NKX2-5 | No goiter, hypothyroidism, no cardiac alterations | |
| FOXE1 | Hypothyroidism, Bamforth-Lazarus syndrome | ||
| PAX8 | Congenital hypothyroidism, non-syndromic | ||
| DUOX2 | Congenital hypothyroidism, non-syndromic | ||
| Thyroid hypoplasia | NKX2-1 | No goter, variable hypothyroidism (mild to severe), choreoathetosis, pulmonary alterations | |
| TSHR | Reistance to TSH: no goiter, variable hypothyroidism (mild to severe) | ||
| PAX8 | No goiter, variable hypothyroidism (moderate to severe) | ||
| Dysormonogenesis | Goiter | NIS | Variable hypothyroidism (moderate to severe) |
| TPO | Variable hypothyroidism (moderate to severe) | ||
| DUOX1 and DUOX2 | Permanent hypothyroidism (mild to severe), transient and moderate hypothyroidism | ||
| DUOXA2 | Variable hypothyroidism (mild to severe) | ||
| PDS | Moderate hypothyroidism and deafness; | ||
| TG | Variable hypothyroidism (from moderate to severe) | ||
| DHEAL1 | Variable hypothyroidism (mild to severe) |
From: Genetic Defects in Thyroid Hormone Supply
This electronic version has been made freely available under a Creative Commons (CC-BY-NC-ND) license. A copy of the license can be viewed at http://creativecommons.org/licenses/by-nc-nd/2.0/.
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