Pituitary stalk interruption syndrome presenting in a euthyroid adult with short stature

Nawaz, Atif; Azeemuddin, Muhammad; Shahid, Jehanzeb

doi:10.1016/j.radcr.2017.12.002

Cited by 14 publications

(12 citation statements)

References 14 publications

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“…Our patient's thyroid function tests favored secondary hypothyroidism because of a very low free T4 (FT4) level and slightly increased TSH level, together with a negative anti-thyroid antibody level; Similar findings were also reported by Guo et al in a subgroup of PSIS patients [5]. Interestingly, patients initially presenting with isolated GH deficiency initially, may develop multiple anterior pituitary hormone deficiencies later in life in the second or third decade of life [1]. Hence, a close follow-up of PSIS patients is required.…”

Section: Clinical Presentationssupporting

confidence: 89%

“…The mean age at the time of diagnosis is 9.4 ± 11.6 years. Interestingly, male predominance has also been reported with a male-to-female ratio of 2.3-6.9:1.0, suggesting X-linked inheritance [1]. The incidence of breech delivery, cesarean section, and neonatal distress are high in the PSIS population [5].…”

Section: Discussionmentioning

confidence: 99%

“…Pituitary stalk interruption syndrome (PSIS) is a rare congenital disorder with a reported incidence of 0.5/100,000 live births [1]. The first case was reported in 1987 by Fujisawa et al after surgical resection of pituitary stalk in patients with idiopathic pituitary dwarfism [2].…”

Section: Introductionmentioning

confidence: 99%

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Pituitary Stalk Interruption Syndrome

Fatima¹,

Chandio²,

Muzaffar³

et al. 2020

Cureus

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Pituitary stalk interruption syndrome (PSIS) is a rare, congenital disorder characterized by a triad of a thin or interrupted pituitary stalk, aplasia or hypoplasia of the anterior pituitary, and absent or ectopic posterior pituitary (EPP) seen on magnetic resonance imaging (MRI). It can either present at birth or later in life. PSIS is very heterogeneous with respect to its hormonal, clinical, and radiological presentation. The patient described is an 18-year-old male who presented with complaints of short stature and underdeveloped secondary sexual characteristics with weight and height of less than three percentiles for his age. The secondary sexual characteristics were consistent with Tanner Stage II. Some of the pituitary hormones were also deficient. Wrist X-ray was compatible with a bone age of a seven-to eight-year-old. MRI confirmed the diagnosis of PSIS (pituitary stalk interruption syndrome).

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Section: Clinical Presentationssupporting

confidence: 89%

Section: Discussionmentioning

confidence: 99%

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Pituitary Stalk Interruption Syndrome

Fatima¹,

Chandio²,

Muzaffar³

et al. 2020

Cureus

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“…Serum TSH level is not associated with pituitary stalk status or with the height of the anterior pituitary gland, and measurement may be within the normal limits in most patients with central hypothyroidism (62). Isolated sparing of TSH secretion with deficiency of the remaining anterior pituitary hormones has also been described (63).…”

Section: Hormonal Presentationmentioning

confidence: 99%

DIAGNOSIS OF ENDOCRINE DISEASE: Pituitary stalk interruption syndrome: etiology and clinical manifestations

Vergier

Castinetti

Saveanu

et al. 2019

European Journal of Endocrinology

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Pituitary stalk interruption syndrome (PSIS) is a congenital pituitary anatomical defect. This syndrome is an antenatal developmental defect belonging to the holoprosencephaly phenotype spectrum. It is heterogeneous regarding clinical, biological and radiological presentation and is characterized by the following triad: thin (<1 mm) or interrupted pituitary stalk connecting the hypothalamus to the pituitary gland, no eutopic posterior lobe, and hypoplasia or aplasia of the anterior lobe. This review reports current knowledge about the composite pathogenesis, for which underlying mechanisms remain unclear. Current data suggest genetic origins involving early developmental gene mutations with complex inheritance patterns and environmental influence, placing PSIS at the crossroads between Mendelian and multifactorial diseases. The phenotype associated with PSIS is highly heterogeneous with a high incidence of various combinations of hormonal deficiencies, sometimes associated with extra-pituitary birth defects. The age at onset is variable, but typical presentation is evolutive combined anterior pituitary hormone deficiencies at pediatric age, which progress even during adulthood to panhypopituitarism. Therefore, patients’ follow-up throughout life is essential for adequate management.

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“…The clinical and biological presentations of patients with PSIS vary with precocity and type of presenting symptom, isolated or multiple nature of the hypothalamo-pituitary deficiency and hypothalamic or pituitary origin of the deficiency [5]. Panhypopituitarism presents as early as in the neonatal period [6] and short stature with primary infertility presents as late as in adulthood [7]. The prevalence of deficiency in growth hormone is the most, followed by gonadotropins, thyrotropin and corticotrophin [8].…”

Section: Discussionmentioning

confidence: 99%

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2019

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Pituitary Stalk Interruption Syndrome (PSIS) is characterized by association of an absent or thin pituitary stalk, an absent or hypoplastic anterior pituitary lobe and/or an ectopic posterior pituitary lobe [1]. This syndrome belongs to the spectrum of midline abnormalities and is often associated with other midline extra-pituitary malformations [2]. The importance of its diagnosis lies on the basis that it leads to complete and permanent form of anterior pituitary hormone deficiency which occurs in varied fashion. We present to you a case duplet of PSIS with two different forms of presentation and pituitary morphology.

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Pituitary stalk interruption syndrome presenting in a euthyroid adult with short stature

Cited by 14 publications

References 14 publications

Pituitary Stalk Interruption Syndrome

Pituitary Stalk Interruption Syndrome

DIAGNOSIS OF ENDOCRINE DISEASE: Pituitary stalk interruption syndrome: etiology and clinical manifestations

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