Table 1 Review of endocrinological and anatomical characteristics of patients with congenital hypopituitarism and internal carotid malformations
Sex | Age | Pituitary MRI | Internal carotid RMI | Other characteristics | Molecular studies | References | |
|---|---|---|---|---|---|---|---|
1 | N | N | Not specified (except for normal posterior pituitary). | Absence of ICA and carotid canal. | Not specified. | NP | [14] |
2 | M | 18 m | Pituitary hypoplasia. | Anomaly of right ICA. | TSH, GH, ACTH deficiency. Central diabetes insipidus. Possible hypogonadism. | NP | [13] |
3 | F | 5 m | Absence of anterior pituitary and ectopic pituitary posterior lobe. | Absence of right common carotid artery, right ICA, right anterior cerebral artery. | TSH, ACTH and GH deficiency. No evidence of diabetes insipidus. Genitalia were normal. Single central maxillary incisor. | NP | [7] |
4 | M | 23 year | Absence of anterior pituitary and ectopic pituitary posterior lobe. | Absence of right ICA and carotid canal and A1 segment of the right anterior cerebral artery. | Congenital microphthalmia with cataract and coloboma of the right eye, encephalocele. Hormonal substitution treatments not specified. | NP | [5] |
5 | M | 37 year | Absence of anterior pituitary. | Hypoplasia of right ICA and carotid canal. | Amblyopia of the left eye caused by an optic nerve coloboma, encephalocele. Hormonal substitution treatments not specified. | NP | [5] |
6 | F | 29 year | Pituitary hypoplasia and ectopic pituitary posterior lobe. | Absence of right ICA, carotid canal, and A1 segment of the right anterior cerebral artery. | TSH, ACTH, and GH deficiency. No evidence of diabetes insipidus. Hypogonadism. Chiari I malformation with syringomyelia. | NP | [9] |
7 | M | 5 year | Absence of anterior pituitary and ectopic pituitary posterior lobe. | Absence of left ICA and carotid canal, A1 segment of the left anterior cerebral artery and the anterior communicating artery. | Retrognathia, microphallus, and cryptorchidism. TSH, ACTH, GH deficiency, but no evidence of diabetes insipidus. Possibile hypogonadism. | NP | [10] |
8 | M | 11 year | Pituitary hypoplasia | Absence of left ICA and carotid canal; hypoplasia of A1 segment of left anterior cerebral artery | TSH, ACTH, GH deficiency. Central diabetes insipidus. Microphallus with possible hypogonadism. | NP | [6] |
9 | F | 10 year | Hypoplastic anterior pituitary, flat sella turcica, absent pituitary stalk | Agenesis of the left ICA and the left carotid canal | GH, TSH, gonadotropin deficiency. No evidence of diabetes insipidus. Born out of a consanguineous marriage. | No HESX1, LHX4, OTX2 mutations | [8] |
10 | F | 7 month | Adenohypophyseal hypoplasia with a lack of posterior pituitary hyperintensity | Absence of the left ICA | Desaturation episodes, recurrent respiratory infections. Short hands and feet. GH, ACTH and TSH deficiency. | 17q24.2 deletion | [3] |
11 | F | 2 year | Adenohypophyseal hypoplasia with a lack of posterior pituitary hyperintensity | Absence of the right ICA | GH, TSH, and gonadotropin deficiency. No clinical evidence of diabetes insipidus. | NP | [11] |
12 | M | 3 week | Absence of anterior pituitary with ectopic posterior pituitary | Absence of the left ICA and carotid canal | GH, TSH, ACTH and gonadotropin deficiency. Microphallus. | NP | [12] |
13 | M | 17 year | Adenohypophyseal hypoplasia with a lack of posterior pituitary hyperintensity | Agenesis of the left ICA | GH deficiency. No other pituitary deficiencies. No clinical evidence of diabetes insipidus. | Normal array-CGH | Our case |