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Open access

Charlotte S Schömig, Marie-Ève Robinson and Julia E von Oettingen

Summary

Congenital hypothyroidism requires prompt treatment to prevent adverse health outcomes. Poor intestinal levothyroxine absorption can complicate management. We present a case of a term female newborn with necrotizing enterocolitis (NEC) requiring subtotal ileum resection. Congenital hypothyroidism was diagnosed by newborn screening. Treatment was complicated by intestinal malabsorption of levothyroxine. Intravenous levothyroxine substitution restored euthyroidism and supraphysiologic PO doses subsequently maintained a euthyroid state. After several months, the required levothyroxine dose was weaned down to typical recommended dosing. In conclusion, small bowel resection secondary to NEC may lead to malabsorption of oral levothyroxine. An intravenous levothyroxine dose of approximately 50% typical PO dosing is effective in providing rapid normalization of free T4 and TSH. High PO doses may be required to maintain euthyroidism. Close thyroid function monitoring and immediate therapy adjustment are essential as the individual absorption may vary widely. Normal absorption levels may be regained due to adaption of the neonatal intestines.

Learning points:

  • In neonates with malabsorption after ileum resection intravenous levothyroxine replacement should be used to provide normalization of free T4 and TSH.

  • Very high doses of up to 500% usual oral levothyroxine may be required to maintain euthyroidism. The estimated degree of malabsorption can be used to determine the initial dose.

  • Close thyroid function monitoring and immediate therapy adjustment are essential as the absorption and intestinal adaption may vary widely.

Open access

Syed Ali Imran, Khaled A Aldahmani, Lynette Penney, Sidney E Croul, David B Clarke, David M Collier, Donato Iacovazzo and Márta Korbonits

Summary

Early-onset acromegaly causing gigantism is often associated with aryl-hydrocarbon-interacting receptor protein (AIP) mutation, especially if there is a positive family history. A15y male presented with tiredness and visual problems. He was 201 cm tall with a span of 217 cm. He had typical facial features of acromegaly, elevated IGF-1, secondary hypogonadism and a large macroadenoma. His paternal aunt had a history of acromegaly presenting at the age of 35 years. Following transsphenoidal surgery, his IGF-1 normalized and clinical symptoms improved. He was found to have a novel AIP mutation destroying the stop codon c.991T>C; p.*331R. Unexpectedly, his father and paternal aunt were negative for this mutation while his mother and older sister were unaffected carriers, suggesting that his aunt represents a phenocopy.

Learning points:

  • Typical presentation for a patient with AIP mutation with excess growth and eunuchoid proportions.

  • Unusual, previously not described AIP variant with loss of the stop codon.

  • Phenocopy may occur in families with a disease-causing germline mutation.

Open access

Despoina Manousaki, Cheri Deal, Jean Jacques De Bruycker, Philippe Ovetchkine, Claude Mercier and Nathalie Alos

Summary

Cystic sellar lesions are a rare cause of hypopituitarism and extremely rare in the pediatric age group. The differential diagnosis is large and includes both primary pituitary abscesses and cystic components on pre-existing lesions, such as adenoma, craniopharyngioma, Rathke's cleft cyst, leukemia, granulomatous disease and lymphocytic hypophysitis. In the absence of a definitive diagnosis, treatment can be challenging. We report a case of a 15-year-old female, who presented with headaches, altered consciousness and diplopia after a molar extraction, for which she had received oral antibiotics. Broad-spectrum i.v. antibiotics were given for presumed meningitis. Blood cultures failed to identify pathogens. Cerebral magnetic resonance imaging showed a pituitary cystic lesion. Endocrine studies revealed abnormal pituitary function. In the absence of a therapeutic response, the patient underwent a transsphenoidal biopsy of the pituitary gland, which yielded a purulent liquid, but cultures were negative. Histopathology showed lymphocytic infiltrates but no neutrophils, compatible with an inflammation of autoimmune or infectious origin. High-dose glucocorticoid therapy was started and pursued, along with i.v. antibiotics, for 6 weeks, leading to clinical and radiological improvement but with persistence of endocrine deficits. In conclusion, this is a case of secondary panhypopituitarism due to a cystic pituitary lesion, with a differential diagnosis of lymphocytic hypophysitis vs abscess in a context of decapitated meningitis. Combination therapy with antibiotics and glucocorticoids is a legitimate approach in the face of diagnostic uncertainty, given the morbidity, and even mortality, associated with these lesions.

Learning points

  • It is not always easy to differentiate primary cystic sellar lesions (such as a primary infectious pituitary abscess) from cystic components on pre-existing lesions (such as adenoma, craniopharyngioma, Rathke's cleft cyst, leukemia or lymphocytic hypophysitis).

  • Because of the absence of specific symptoms and of immunohistochemical and serum markers, response to glucocorticoids can be the only way to differentiate lymphocytic hypophysitis from pituitary lesions of another origin. In addition, microbiological cultures are negative in 50% of cases of primary infectious sellar abscesses, thus the response to antibiotic treatment is often the key element to this diagnosis.

  • A short course of high-dose glucocorticoids combined with antibiotics is not harmful in cases where there is no diagnostic certainty as to the origin of a cystic sellar mass, given the morbidity and mortality associated with these lesions.

  • This approach may also diminish inflammation of either infectious or autoimmune origin while ensuring that the most likely pathogens are being targeted.