Table 1. Phenotypic and biological profiles of the patients bearing the four new allelic variants.
| Mutation | W204X | DelK242 | N271S | Q346R | Q346R |
|---|---|---|---|---|---|
| Year of birth | 2001 | 2005 | 2003 | 1996 | 1983 |
| Country | France | Argentina | Argentina | France | Slovenia |
| Medical history of hypopituitarism in family | No | No | Not specified | No | Not specified |
| ACTH deficiency | Yes (9 yrs) | Yes (0.1 yr) | No | NO | Yes (18 yrs) |
| TSH deficiency | Yes (2 yrs) | Yes (0.1 yr) | Yes (3 yrs) | Yes (10 yrs) | Yes (10 yrs) |
| FSH/LH deficiency | NE | NE | No | No | Yes (15 yrs) |
| GH deficiency | Yes (2 yrs) | Yes (0.1 yr) | Yes (2 yrs) | Yes (6 yrs) | Yes (10 yrs) |
| Anterior pituitary on MRI | Hypoplastic | Hypoplastic | Normal | Hypoplastic | Hypoplastic |
| Posterior pituitary MRI | Ectopic | Not specified | Ectopic | Ectopic | Ectopic |
| Pituitary stalk MRI | Not visualized | Not specified | Thin | Not visualized | Not visualized |
| Associated malformations | No | No | Cleft lip and palate | Hypospadias, toe agenesis, short limb | No |
For pituitary deficiencies, data between brackets represent age at diagnosis. Complete GH deficiency was defined as GH response after stimulation below 10 mUI/liter. Corticotroph deficiency was defined as plasma cortisol value below 500 nmol/liter after insulin test stimulation. Gonadotroph axis was investigated only in patients of postpubertal age, ie. older than 15 years for female and 17 years in male subjects. FSH-LH deficiency was diagnosed on the basis of delayed or absent pubertal development with low serum testosterone or estradiol levels and blunted LH/FSH response to a GnRH stimulation test. Thyrotroph deficiency was defined as low or normal basal TSH levels associated with low T4 levels. NE, not evaluated.