Table 4.
Clinical features in male patients with fetal-onset central hypogonadism associated with multiple pituitary hormone deficiency.
| Gene | OMIM | Other pituitary lineages affected | Associated clinical features |
|---|---|---|---|
| HESX1 | #182230 | Somatotrope | Septo-optic dysplasia |
| Lactotrope | Midline defects | ||
| Thyrotrope | Coloboma | ||
| Corticotrope | Polydactyly | ||
| SOX2 | #206900 | Somatotrope | Septo-optic dysplasia |
| Anopthalmia/microphthalmia | |||
| Sensorineural defects | |||
| Esophageal atresia | |||
| SOX3 | #312000 | Somatotrope | Septo-optic dysplasia |
| Thyrotrope | |||
| Corticotrope | |||
| LHX3 | #221750 | Somatotrope | Rigid and short cervical spine |
| Lactotrope | Limited head rotation | ||
| Thyrotrope | |||
| LHX4 | #262700 | Somatotrope | Hindbrain defects |
| Thyrotrope | Abnormality of central skull base | ||
| Corticotrope | |||
| GLI2 | #610829 | Somatotrope | Holoprosencephaly |
| Lactotrope | |||
| Thyrotrope | |||
| Corticotrope | |||
| PITX2 | #180500 | Somatotrope | Axenfeld–Rieger syndrome (anomalies of anterior eye chamber, dental hypoplasia, craniofacial dysmorphism and protuberant umbilicus) |
| Thyrotrope | |||
| SIX6 | #212550 | Somatotrope | Anophthalmia |
| Brain cortical atrophy | |||
| Brachiootorenal syndrome | |||
| Oculoauriculovertebral spectrum | |||
| OTX2 | #613986 | Somatotrope | Microphthalmia/anophthalmia |
| Thyrotrope | Cleft palate | ||
| Corticotrope | Developmental delay | ||
| PROP1 | #262600 | Somatotrope | Intra- and extra-sellar cell mass, which may degenerate leading to empty sella later in life |
| Thyrotrope | |||
| Corticotrope |
OMIM, Online Mendelian Inheritance in Man locus, gene and phenotype numbers (http://www.ncbi.nlm.nih.gov/omim).