Table 3.
Syndromes Associated With Pubertal Delay
| Phenotype | Genetic Defect | |
|---|---|---|
| Prader–Willi syndrome (210) | Mental retardation, morbid obesity, hypotonia | Deletions within paternally imprinted 15q 11.2–12 region |
| Bardet–Biedl syndrome (211) | Mental retardation, obesity, retinitis pigmentosa, postaxial polydactyly | BBS 1-11 (multiple loci) 20p12, 16q21, 15q22.3–23, 14q32.1 |
| Biemond syndrome (212) | Iris coloboma, polydactyly, short stature | |
| CHARGE anomaly (213) | Coloboma, heart malformations, choanal atresia, growth retardation, genital anomalies and ear anomalies, HH, olfactory bulb aplasia, hypoplasia | CHD7 |
| Adrenohypoplasia congenita (214) | Primary adrenal deficiency | NR0B1 |
| Septo-optic dysplasia (215) | Small, dysplastic pale optic discs, pendular nystagmus, midline hypothalamic defect with diabetes insipidus, GH, ACTH, TSH, and LH/FSH deficiency, absent septum pellucidum | HESX1 |
| Solitary median maxillary incisor syndrome (216) | Prominent midpalatal ridge | SHH 7q3 |
| Börjeson–Forssman–Lehmann syndrome (217) | Mental retardation, gynecomastia, moderate short stature, truncal obesity | PHF6 |
| Gordon Holmes syndrome (218) | Cerebellar ataxia, dementia, chorioretinopathy, anterior hypopituitarism | RNF216/OTUD4 |
| PNPLA6 |