Panhypopituitarism in a child with common variable immunodeficiency

Younes, Jihad S.

doi:10.1016/s1081-1206(10)61963-1

Cited by 18 publications

(17 citation statements)

References 21 publications

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“…The authors suggested that both deficiencies were not coincidental and might have an autoimmune origin. The second study (9) reported a child first diagnosed for CVID after an adrenal crisis triggered by a pneumonia. Then panhypopituitarism was diagnosed.…”

Section: Discussionmentioning

confidence: 99%

“…Four genes respectively encoding ICOS (inducible costimulator), TACI (transmembrane activator and calcium-modulating cyclophilin ligand interactor), BAFF-R (B-cell-activating factor receptor), and CD19 (Blymphocyte antigen CD19) have been found mutated in patients with CVID (7). Only rare scattered cases of such an association of ACTH deficiency and CVID have been reported in the literature (8,9). This association in the GENHYPOPIT cohort seemed highly unlikely to be coincidental for several reasons: the very low incidence of both conditions, the existence of one familial case among three affected pedigrees, with the striking combination of both disorders in a single kindred, and the known interactions between the immune system and the hypothalamus-pituitary-adrenal (HPA) axis (10).…”

mentioning

confidence: 99%

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Deficit in Anterior Pituitary Function and Variable Immune Deficiency (DAVID) in Children Presenting with Adrenocorticotropin Deficiency and Severe Infections

Quentien

Delemer²,

Papadimitriou

et al. 2012

The Journal of Clinical Endocrinology & Metabolism

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Deficit in Anterior Pituitary Function and Variable Immune Deficiency (DAVID) in Children Presenting with Adrenocorticotropin Deficiency and Severe Infections

Quentien

Delemer²,

Papadimitriou

et al. 2012

The Journal of Clinical Endocrinology & Metabolism

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“…Hypophysitis occurs rarely in children. But, as in adults, it can be associated with autoimmune disease [5, 6]. Interestingly, 3 of these case reports concern peripubertal girls raising the question of the influence of estrogens on tumor progression [7].…”

Section: Discussionmentioning

confidence: 99%

Isolated Lymphocytic Infiltration of Pituitary Stalk Preceding the Diagnosis of Germinoma in 2 Prepubertal Children Treated with Growth Hormone

Edouard¹,

Stafford

Oliver³

et al. 2009

Horm Res Paediatr

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We report the clinical course of 2 patients with central diabetes insipidus and evolving to panyhypopituitarism which prompted the diagnosis of an isolated pituitary stalk thickening (PST). In both patients, all etiological investigations were normal and the first biopsy revealed an isolated lymphocytic infiltrate with no sign of malignancy. Close clinical follow-up accompanied by serial brain MRIs was proposed to determine a precise diagnosis and for early detection and treatment of neoplastic disease. In our first case, the diagnosis of germinoma was made 9 months after the PST diagnosis owing to tumor progression. In the second case, the time course was even longer with the diagnosis of germinoma 6 years following initial presentation. In these cases, it is speculated that the lymphocytic infiltrates represent the first sign of a host reaction to an occult germinoma. To our knowledge, this is the third case reported of lymphocytic infiltrates preceding a germinoma in a prepubertal girl, and the only case reported in a prepubertal boy. These cases underline the difficulties in establishing the diagnosis of germinoma in a patient with isolated PST.

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“…9 They observed the association of ACTH deficiency and CVID in their 4 cases and in 2 cases already published. [9][10][11] Two of these patients had partial GH deficiency and small pituitary glands, as well as panhypopituitarism and ACTH deficiency, but no LIFE, IKAROS, and EOS gene defects. TACI gene mutation was not investigated in these patients.…”

Section: Discussionmentioning

confidence: 99%