Table 1.
Congenital hypopituitarism with POU1F1 gene mutation.
| Writer, publish date | Study type and case | Gene mutation of POU1F1 | Sex | Age at diagnosis (year) | Presentation | Influenced hormone | MRI | Follow up |
|---|---|---|---|---|---|---|---|---|
| Jullien et al., 2021 | Cohort study | Homozygous c.92dup (p.Ala32Cysfs42) | – | – | – | GH, TSH, PRL | – | – |
| Li et al., 2020 | Case report | Heterozygous c.767-769del (p.Glu256del) | M | 0.8 | Failure to thrive, hypoglycemia, poor appetite, constipation | GH, TSH, PRL | – | – |
| Chen, Zhang, Wu, & Li, 2019 | Case report | Heterozygous c.889C > T (p.R297W) | F | 2.3 | Failure to thrive, midline facial defects | GH, TSH | APH | Catch-up growth |
| Birla et al., 2019 | Cohort study | C.605-1G > A | – | – | – | – | – | – |
| C.605delC | – | – | Failure to thrive | GH, TSH | – | – | ||
| C.1–59 T > A | – | – | – | – | – | – | ||
| C. + 8C > T | – | – | – | – | – | – | ||
| Blum et al., 2018 | Cohort study | |||||||
| Sibling 1 | Homozygous c.427C > T (p.Arg143Ter) | F | 3.0 | Failure to thrive, hypoglycemia, prominent forehead, late dentition | GH, TSH | – | – | |
| Sibling 2 | Homozygous c.427C > T (p.Arg143Ter) | F | 2.0 | Failure to thrive | GH, TSH | – | – | |
| Bas et al., 2018 | Case series | |||||||
| 1 sporadic patient | Homozygous c.731 T > G (p.I244S) | M | 1.7 | Failure to thrive, precocious puberty at 7-year-9-month-old | GH, TSH, PRL | APH | Catch-up growth | |
| 1 sporadic patient | Homozygous c.10C > T (p.Q4*) | M | 0.5 | Failure to thrive, precocious puberty at 10-year-old | GH, TSH, PRL | APH | Catch-up growth | |
| Takagi et al., 2017 | Case report | |||||||
| Sibling 1 | Heterozygous c.143-83A > G | F | 0.3 | Failure to thrive | GH, TSH, PRL | APH | Catch-up growth | |
| Sibling 2 | Heterozygous c.143-83A > G | F | 0.3 | Failure to thrive | GH, TSH | Normal | Catch-up growth | |
| Bertko et al., 2017 | Cohort study | Homozygous c.-1387_214 + 455del | M | 11.5 | Failure to thrive | GH, TSH, PRL | APH | – |
| Sobrier et al., 2016 | Case series of 9 patients | Heterozygous c.227C > T (p.Pro76Leu) | – | – | Failure to thrive | GH | APH or normal | – |
| Birla et al., 2016 | Case control study | |||||||
| 3 familys, 5 patients | Homozygous/heterozygous c.605-1G- > A | 5 M | 1.6–9 | Failure to thrive | GH, TSH | APH | – | |
| 1 family, 1 patient | Homozygous c.605delc | M | 5.0 | Failure to thrive | GH, TSH | APH | – | |
| 2 familys, 2 patients | Heterozygous c.1-59 T > A | 2 M | 15–18 | Failure to thrive | GH, TSH, FSH, LH | Normal | – | |
| 1 family, 1 patient | Heterozygous c. + 8C- > T | M | 8.0 | Failure to thrive | GH, TSH | EPP | – | |
| De Rienzo et al., 2015 | Cohort study: 1 patient | Homozygous IVS2-3insa | F | 0.5 | Failure to thrive | GH, TSH, PRL | APH | – |
| Bas et al., 2015 | Cohort study | |||||||
| 1 family, 2 patients | Homozygous p.V153F | 1 F, 1 M | 0.9–4.1 | Failure to thrive | GH, TSH, PRL | APH | – | |
| 1 sporadic patient | Homozygous p.I244S | M | 2.0 | Failure to thrive | GH, TSH, PRL, FSH, LH | APH | – | |
| 1 sporadic patient | Homozygous p.Q4X | M | 0.5 | Failure to thrive | GH, TSH | APH | – | |
| 1 sporadic patient | Homozygus Ex1-2 deletion | M | 0.6 | Failure to thrive | GH, TSH, PRL | APH | – | |
| Turton, Strom, Langham, Dattani, & Le Tissier, 2012 | Case report | Compound heterozygosity: IVS1 + 3 nt(A > G)/c.793C > T (p.R265W) | M | 8.0 | Failure to thrive, global developmental delay, midline facial defect, micropenis | GH, TSH, PRL | APH | Catch-up growth, improved neurodevelopment |
| Tenenbaum-Rakover, Sobrier, & Amselem, 2011 | Case report | Homozygous c.502inst (p.Thr168IlefsX7) | M | 0.8 | Failure to thrive, prolonged jaundice, constipation, hypoglycemia, seizure, midline facial defect, micropenis, delay puberty | GH, TSH, PRL | APH | Short stature |
| Lee et al., 2011 | Case report | Homozygous c.698 T > C (p.F233S) | F | 2.2 | Failure to thrive, developmental delay, hypotonia, poor oral intake | GH, TSH, PRL | Sunken diaphragma sella | Poor compliance, Kocher-Debre-Semelaigne syndrome |
| De Graaff et al., 2010 | Cohort study: 1 patient | P.R271W | M | – | – | GH, TSH, PRL | – | – |
| Snabboon et al., 2008 | Case report | Homozygous IVS4 + 1G > A | M | 18.0 | Failure to thrive, midline facial defect, cretinism | GH, TSH, PRL | APH | Poor compliance, delayed psychomotor development, severe short stature |
| Miyata et al., 2006 | Case report | Homozygous p.S179R | M | 4.0 | Failure to thrive, poor feeding | GH, TSH, PRL | APH | Short stature |
| Turton et al., 2005 | Cohort study | |||||||
| 1 family, 2 patients | Compound heterozygosity: c.688G > A (p.E230K)/c.515G > A (p.R172Q) | 2 M | 0.1–0.3 | Failure to thrive | GH, TSH, PRL | APH | – | |
| 2 familys, 2 patients | Homozygous c.688G > A (p.E230K) | 1 F, 1 M | 1.4–2.3 | Failure to thrive | GH, TSH, PRL | APH | Catch-up growth | |
| 3 familys, 5 patients | Heterozygous c.811C > T (p.R271W) | 2 F, 3 M | 0.2–6 | Failure to thrive | GH, TSH, PRL | APH or normal | Short stature | |
| 1 sporadic patient | Compound heterozygosity: c.688G > A (p.E230K)/ins778a | F | 2.4 | Failure to thrive | GH, TSH, PRL | APH | – | |
| Rainbow et al., 2005 | Cohort study | |||||||
| 1 family, 2 patients | Heterozygous p.R271W | 2 F | 0.9–1.3 | Failure to thrive, optic nerve hypoplasia | GH, TSH, PRL | APH | – | |
| 1 couple of twins patients | Homozygous p.F233L | 2 F | At birth | Intrauterine growth retardation, midline facial defect, short upper limbs, poor feeding | GH, TSH | – | Expired at 3-week-old and 2-month-old | |
| Ward et al., 1998 | Case report | Heterozygous c.811C > T (p.R271W) | M | 1.7 | Failure to thrive, prolonged jaundice, constipation, hypoglycemia, developmental delay, midline facial defect | GH, TSH, PRL | Normal | – |
| Rodrigues Martineli, Braga, De Lacerda, Raskin, & Graf, 1998 | Case report | Heterozygous c.811C > T (p.R271W) | F | 13.0 | Failure to thrive, midline facial defect, normal psychomotor development | GH, TSH, PRL | APH | Poor compliance, short stature, hypothyroidism |
| Fofanova et al., 1998 | Cohort study | Heterozygous p.P14L | F | 3.8 | Failure to thrive | GH, TSH, PRL | – | Catch-up growth |
| Arnhold et al., 1998 | Case report | Heterozygous p.R271W | F | 14.0 | Failure to thrive, normal psychomotor development, delay pubarche | GH, TSH, PRL | Reduce size of pituitary | Short stature |
| Pfaffle et al., 1992 | Cohort study: 2 patients | Homozygous c.527C > G (p.A158P) | 1 F, 1 M | – | – | GH, TSH, PRL | Normal | – |
M: male; F: female; GH: growth hormone; TSH: thyroid stimulating hormone; PRL: prolactin; FSH: follicle-stimulating hormone; LH: luteinizing hormone; APH: Anterior pituitary hypoplasia.