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. 2017 Jan-Mar;13(1):96-105.
doi: 10.4183/aeb.2017.96.

PITUITARY STALK INTERRUPTION SYNDROME: REPORT OF TWO CASES AND LITERATURE REVIEW

C Lichiardopol  1   2 , D M Albulescu  3
Affiliations

PITUITARY STALK INTERRUPTION SYNDROME: REPORT OF TWO CASES AND LITERATURE REVIEW

C Lichiardopol et al. Acta Endocrinol (Buchar). 2017 Jan-Mar.

Abstract

Pituitary stalk interruption syndrome (PSIS) consisting of the triad: ectopic posterior pituitary (EPP), thin or absent pituitary stalk and anterior pituitary hypoplasia is a rare pituitary malformation with variable degrees of pituitary insufficiency, from isolated growth hormone deficiency to TSH, gonadotropin and ACTH deficiency which may occur in time, with normo, hyper or hypoprolactinemia and central diabetes insipidus in up to 10% of cases. Also, extrapituitary malformations have been described in some cases. Genetic defects were identified only in 5% of cases. MRI findings are considered predictive for the endocrine phenotype. We aim to describe two cases with PSIS without central diabetes insipidus, anosmia and extrapituitary malformations, except for minor head dysmorphic features. The first case was referred at the age of 4 years for short stature (-4SDS for height, bone age 2 years), diagnosed with severe GH deficiency and developed central hypothyroidism and hypoprolactinemia during five-years follow-up. The second case, a 26 year old male with birth asphyxia, cryptorchidism, poor growth in childhood and adolescence (-3 to -4 height SDS), absent puberty and normal adult height (-1.18 SDS; bone age 15.5 years and active growth plates) had GH, TSH, ACTH deficiency and low normal PRL levels. Increasing medical awareness on PSIS clinical and endocrine heterogeneity may help a more early and accurate diagnosis. Corroboration of neuroimaging and endocrine data will improve our knowledge and understanding and will create premises for molecular diagnosis, genetic counseling and a better patients' management.

Keywords: hypopituitarism; magnetic resonance imaging; pituitary stalk interruption syndrome.

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Conflict of interest statement

The authors declare that they have no conflict of interest concerning this article.

Figures

Figure 1.
Figure 1.
Facial appearance of the first case- large forehead, deep set eyes, hypertelorism, broad nasal bridge, bulbous nasal tip, long philtrum, narrow upper lip.
Figure 2.
Figure 2.
Head MRI of the first case; sagittal T1 weighted section in the first case showing slight anterior pituitary hypoplasia, a thin pituitary stalk, and the bright spot of the posterior pituitary adjacent to the optic chiasm (arrow).
Figure 3.
Figure 3.
Eunuchoid habitus, cryptorchidism, gynaecomastia and absence of androgenic body hair due to hypogonadotropic hypogonadism in the second case.
Figure 4.
Figure 4.
Second patient -large forehead, fine wrinkles, retrognathia, posteriorly rotated ears.
Figure 5.
Figure 5.
Wrist X-ray of the 26 year-old patient showing a marked delayed bone age (15.5 years) and still active growth plates.
Figure 6.
Figure 6.
Contrast enhanced head MRI, T1 weighted sagittal section of the second case showing absence of the pituitary stalk, ectopic posterior pituitary, located near the optic chiasm, and reduced anterior pituitary parenchyma, visible on the bottom of the fluid filled sella turcica.
Figure 7.
Figure 7.
Marked virilization, penile growth and testicular complete descent in the second case, following percutaneous testosterone treatment.
See this image and copyright information in PMC

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