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1.

X-linked central congenital hypothyroidism with late-onset testicular enlargement

Central hypothyroidism and testicular enlargement (CHTE) is characterized by central hypothyroidism, delayed pubertal testosterone rise, adult macroorchidism, variable prolactin deficiency, and occasional transient partial GH deficiency. Some carrier females also exhibit central hypothyroidism and mild prolactin deficiency. Inter- and intrafamilial variability has been observed (summary by Joustra et al., 2016). [from OMIM]

MedGen UID:
763877
Concept ID:
C3550963
Disease or Syndrome
2.

Hypothyroidism, congenital, nongoitrous, 8

Congenital nongoitrous hypothyroidism-8 (CHNG8) is characterized by relatively mild central hypothyroidism, which may be accompanied by hearing loss in some patients (Heinen et al., 2016). [from OMIM]

MedGen UID:
1684717
Concept ID:
C5231395
Disease or Syndrome
3.

Hypothyroidism, congenital, nongoitrous, 9

Nongoitrous congenital hypothyroidism-9 (CHNG9) is characterized by a small thyroid gland with low free T4 (FT4) levels and inappropriately normal levels of thyroid-stimulating hormone (TSH) (Heinen et al., 2018). [from OMIM]

MedGen UID:
1684807
Concept ID:
C5231396
Disease or Syndrome
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