Congenital central hypothyroidism associated to multiple pituitary hormone deficiency has an impaired thyroid function similar to congenital primary hypothyroidism due to ectopic or eutopic thyroid

BRASLAVSKY, DÉBORA; KESELMAN, ANA; CHIESA, ANA; BERGADA IGNACIO

Milan

Congreso; 9th Joint Meeting of Pediatric Endocrinology; 2013

ENDO, SLEP

Page 350 Abstr P2 d1 1136 Background: Congenital central hypothyroidism (CCH) is mainly associated to congenital multiple pituitary hormone deficiencies (CMPHO). Although this is a life-threatening disorder, due to its low frequency, most ofworldwide neonatal screening programs by means ofTSH determination do not diagnose this disease. Objective and bypotheses: In the present study we analyzed the severity of CCH in patients with CMPHD and compared them with a large cohort of patients with primary hypothyroidism deteeted with a neonatal screening programo Methods: Thirty three patients, Group A, (24 males) with CMPHO were included in the present study and compared with a cohort of 164 patients (52 males) with primary hypothyroidism detected by a neonatal (TSH) screening program between 1997-2010. These patients were distributed as: athyreotic (Group B,n=48), ectopic (Group C,n=74) and eutopic (Group 0,n=42). Also 8 patients with central hypothyroidism due to BTSH defect (Group E) were included. Results: Median age at diagnosis was significantJy higher in Group A (90 days) and E (112 days) compared to Groups B,C and O (15,15 and 17 days, respectively),p< 0.0001. Patients with CCH had freeT4 serum levels significantly higher median 0.68 ng/ml (range: 0.02-0.99) than patients with athyreosis median 0.15 ng/ml (range 0.03-0.51) and BTSH defect median 0.1 ng/ mI (range 0.06-0.28), p< 0.001, but not significantJy different with ectopic or eutopic primary hypothyroidism median 0.6 ng/ml (range 0.03-1.5) and 0.74 ng/ml (range 0.03-1.66), p = NS). Conclusions: Patients with CCH have a moderate impaired thyroid function as patients with ectopic or eutopic congenital primary hypothyroidism. Although the impact in neurocognitive development ofthis moderate thyroid dysfunction is still unknown, its presence in addition to the morbidities related to CMPHO raises a potential threat to postnatal central nervous system development and call for attention ofthis entity towards an earlier diagnosis.