Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2019) 63 EP112 | DOI: 10.1530/endoabs.63.EP112

ECE2019 ePoster Presentations Pituitary and Neuroendocrinology (37 abstracts)

Short stature and undescended testis in pituitary stalk interruption syndrome

Rania Ahmed , Fahad AlSheikh , Asirvatham Alwin Robert & Mohammed Al Dawish


Prince Sultan Military Medical City, Riyadh, Saudi Arabia.


Objective: Pituitary stalk interruption syndrome (PSIS) is a rare congenital abnormality of the pituitary that is responsible for multiple anterior pituitary hormone deficiencies with the estimated incidence of 0. 5/100,000 live births. We report the a case of PSIS from Saudi Arabia.

Case report: A 16 year old Saudi boy with short stature and undescended testis, status post bilateral orchidopexy presented to our endocrine clinic. He was delivered by caesarean because of breech presentation and birth asphyxia. Investigation revealed underdeveloped secondary sexual characteristics with decreased facial and pubic hair growth. The patient height was 134 cm whereas the bone age was 9–11 years. Pelvis examination showed a scrotum with bilateral 1 mL testes and the stretch penile length was 3 cm. The patient laboratory investigations showed hemoglobin level of 13 g/dL, serum sodium 140 mmol/L, serum potassium 4.1 mmol/L, serum chloride 102 mmol/L, calcium 91 mg/dL, random blood sugar 110 mg/dL and albumin 3.8 mg/dL. A pituitary hormone profile showed hypopituitarism with thyroid, and adrenal sparing. The patient free T4 was 17.3 pmol/L (9–25 pmol/L) and synacthen test revealed a morning baseline cortisol level of 6.5 μg/dL (normal=4.3–22.4 ug/dL) with adrenocorticotrophic hormone of 9.8 pmol/L (1.1–13.2 pmol/L). Insulin-like growth factor 1 level 50 ng/dL (normal=193.0–731.0 ug/L), follicle-stimulating hormone 0.35 μIU/mL (normal, 0.0–10.0), and leutinizing hormone 0.4 μIU/mL (normal=1.2–7.8). The patient’s morning testosterone level showed 8 ng/dL (normal=280–800 ng/dL) and prolactin 116 mIU/L (normal=86–324 mIU/L). There were no symptom suggestive of posterior pituitary involvement like polyuria and polydipsia as urine and serum osmolality. The MRI examination showed no pituitary gland identified in the sella turcica and no clear pituitary stalk. A T1 hyperintense focus with post-contrast enhancement was identified posterior to the optic chiasma representing an ectopic posterior pituitary gland. The growth hormone and testosterone therapy were added to medical therapy of the patients and no thyroid or hydrocortisone replacement therapy was given. It should always be kept in the differential diagnosis of 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.

Volume 63

21st European Congress of Endocrinology

Lyon, France
18 May 2019 - 21 May 2019

European Society of Endocrinology 

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