Limits...
Pituitary stalk interruption syndrome presenting as short stature: a case report.

Ram N, Ali SA, Hussain SZ - J Med Case Rep (2014)

Bottom Line: We describe a young man who presented with short stature and was found to have pituitary stalk interruption syndrome.Despite the fact that this is a rare disorder, it should always be kept in the differential diagnosis of a patient presenting with short stature.Patients with this disease have an excellent opportunity to reach normal height if they present before the joining of epiphyses.

View Article: PubMed Central - PubMed

Affiliation: Section of Endocrinology, Department of Medicine, The Aga Khan University Hospital, Stadium Road, Karachi 74800, Pakistan. nanik.ram@aku.edu.

ABSTRACT

Introduction: Pituitary stalk interruption syndrome is a rare congenital abnormality of the pituitary that is responsible for anterior pituitary deficiency. It is characterized by a classic triad of interrupted pituitary stalk, absent or ectopic posterior pituitary, and anterior pituitary hypoplasia or aplasia. Clinical presentation varies according to age. In adults it presents as short stature and anterior pituitary deficiency. Without early diagnosis and treatment, mortality and morbidity in these patients is high. Early diagnosis and treatment of this rare disease can prevent permanent short statue of the patient. We report the first case of pituitary stalk interruption syndrome from Pakistan.

Case presentation: A 17-year-old Pakistani young man presented with short stature and underdeveloped secondary sexual characters. His siblings and parents were healthy, with normal height. An examination showed his blood pressure was 90/60 mmHg, and his height, weight, and body mass index were 142 cm, 34.5 kg, and 17.10 kg/m2, respectively. He had no hair growth on his face, axilla, or pubis. His testes were between 1 and 2 mL in size, with a 4 cm-at-stretch micropenis. His lab investigations showed that his thyroid stimulating hormone (TSH) was 8.58 uIU/mL (0.4 to 4.2), his free thyroid hormone level FT4 was 0.46 ng/dL (0.89 to 1.76), his prolactin was 21.1 ng/mL (3.0 to 14.7), and his baseline cortisol was 0.30 ug/dL (4.3 to 22.4). His cortisol level after 60 minutes of cosyntropin injection was 3.5 ug/dL (4.3 to 22.4), his insulin like growth factor IGF-1 was 31.56 ng/mL (247.3 to 481.7), his testosterone level was under 2.5 ng/dL (2 to 800), his follicle stimulating hormone FSH was 0.41 uIU/mL (0.0 to 10.0), and his leutinizing hormone LH was under 0.1 uIU/mL (1.2 to 7.8). His bone age was 10 years according to the Greulich and Pyle method, as shown by X-rays. The results from his pituitary magnetic resonance imaging scan were consistent with pituitary stalk interruption syndrome.

Conclusions: We describe a young man who presented with short stature and was found to have pituitary stalk interruption syndrome. Despite the fact that this is a rare disorder, it should always be kept in the differential diagnosis of a patient presenting with short stature. Patients with this disease have an excellent opportunity to reach normal height if they present before the joining of epiphyses.

Show MeSH

Related in: MedlinePlus

T1 weighted magnetic resonance image of the pituitary. Pituitary stalk is absent (long arrow). Posterior pituitary is not seen in relation to the anterior pituitary in the pituitary fossa and is seen as hyperintense focus at the median eminence (short arrow). Anterior pituitary is seen in pituitary fossa at its normal location and returning a normal signal.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
getmorefigures.php?uid=PMC4300583&req=5

Fig1: T1 weighted magnetic resonance image of the pituitary. Pituitary stalk is absent (long arrow). Posterior pituitary is not seen in relation to the anterior pituitary in the pituitary fossa and is seen as hyperintense focus at the median eminence (short arrow). Anterior pituitary is seen in pituitary fossa at its normal location and returning a normal signal.

Mentions: His bone age was 10 years according to the Greulich and Pyle method as was shown by his X-rays. A magnetic resonance imaging (MRI) scan of his pituitary showed T1 hyperintense focus in the midline at the median eminence with non-visualization of pituitary stalk. Posterior pituitary was not seen in relation to the anterior pituitary in the pituitary fossa. Anterior pituitary was seen in pituitary fossa at its normal location and was returning a normal signal. This represented ectopic posterior pituitary with absent pituitary stalk (FigureĀ 1).Figure 1


Pituitary stalk interruption syndrome presenting as short stature: a case report.

Ram N, Ali SA, Hussain SZ - J Med Case Rep (2014)

T1 weighted magnetic resonance image of the pituitary. Pituitary stalk is absent (long arrow). Posterior pituitary is not seen in relation to the anterior pituitary in the pituitary fossa and is seen as hyperintense focus at the median eminence (short arrow). Anterior pituitary is seen in pituitary fossa at its normal location and returning a normal signal.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4300583&req=5

Fig1: T1 weighted magnetic resonance image of the pituitary. Pituitary stalk is absent (long arrow). Posterior pituitary is not seen in relation to the anterior pituitary in the pituitary fossa and is seen as hyperintense focus at the median eminence (short arrow). Anterior pituitary is seen in pituitary fossa at its normal location and returning a normal signal.
Mentions: His bone age was 10 years according to the Greulich and Pyle method as was shown by his X-rays. A magnetic resonance imaging (MRI) scan of his pituitary showed T1 hyperintense focus in the midline at the median eminence with non-visualization of pituitary stalk. Posterior pituitary was not seen in relation to the anterior pituitary in the pituitary fossa. Anterior pituitary was seen in pituitary fossa at its normal location and was returning a normal signal. This represented ectopic posterior pituitary with absent pituitary stalk (FigureĀ 1).Figure 1

Bottom Line: We describe a young man who presented with short stature and was found to have pituitary stalk interruption syndrome.Despite the fact that this is a rare disorder, it should always be kept in the differential diagnosis of a patient presenting with short stature.Patients with this disease have an excellent opportunity to reach normal height if they present before the joining of epiphyses.

View Article: PubMed Central - PubMed

Affiliation: Section of Endocrinology, Department of Medicine, The Aga Khan University Hospital, Stadium Road, Karachi 74800, Pakistan. nanik.ram@aku.edu.

ABSTRACT

Introduction: Pituitary stalk interruption syndrome is a rare congenital abnormality of the pituitary that is responsible for anterior pituitary deficiency. It is characterized by a classic triad of interrupted pituitary stalk, absent or ectopic posterior pituitary, and anterior pituitary hypoplasia or aplasia. Clinical presentation varies according to age. In adults it presents as short stature and anterior pituitary deficiency. Without early diagnosis and treatment, mortality and morbidity in these patients is high. Early diagnosis and treatment of this rare disease can prevent permanent short statue of the patient. We report the first case of pituitary stalk interruption syndrome from Pakistan.

Case presentation: A 17-year-old Pakistani young man presented with short stature and underdeveloped secondary sexual characters. His siblings and parents were healthy, with normal height. An examination showed his blood pressure was 90/60 mmHg, and his height, weight, and body mass index were 142 cm, 34.5 kg, and 17.10 kg/m2, respectively. He had no hair growth on his face, axilla, or pubis. His testes were between 1 and 2 mL in size, with a 4 cm-at-stretch micropenis. His lab investigations showed that his thyroid stimulating hormone (TSH) was 8.58 uIU/mL (0.4 to 4.2), his free thyroid hormone level FT4 was 0.46 ng/dL (0.89 to 1.76), his prolactin was 21.1 ng/mL (3.0 to 14.7), and his baseline cortisol was 0.30 ug/dL (4.3 to 22.4). His cortisol level after 60 minutes of cosyntropin injection was 3.5 ug/dL (4.3 to 22.4), his insulin like growth factor IGF-1 was 31.56 ng/mL (247.3 to 481.7), his testosterone level was under 2.5 ng/dL (2 to 800), his follicle stimulating hormone FSH was 0.41 uIU/mL (0.0 to 10.0), and his leutinizing hormone LH was under 0.1 uIU/mL (1.2 to 7.8). His bone age was 10 years according to the Greulich and Pyle method, as shown by X-rays. The results from his pituitary magnetic resonance imaging scan were consistent with pituitary stalk interruption syndrome.

Conclusions: We describe a young man who presented with short stature and was found to have pituitary stalk interruption syndrome. Despite the fact that this is a rare disorder, it should always be kept in the differential diagnosis of a patient presenting with short stature. Patients with this disease have an excellent opportunity to reach normal height if they present before the joining of epiphyses.

Show MeSH
Related in: MedlinePlus