Clinical Characteristics of Children with Combined Pituitary Hormone Deficiency and the Effects of Growth Hormone Treatment

Abstract

Aim We aimed to describe the clinical characteristics of patients with congenital combined pituitary hormone deficiency (CPHD) and evaluate the first-year growth responses of individuals with CPHD and isolated growth hormone deficiency (IGHD) in order to establish the influence of other hormone deficiencies on growth response.

Patients and Methods This retrospective study was conducted in four tertiary care centers in Turkey. The records of patients diagnosed with CPHD (n=39) and severe IGHD (n=50) were collected. Cases with acquired lesions or chronic diseases were not included in the study. Data are presented as median (interquartile range).

Results Among 39 patients (13 females; 33%) with a diagnosis of CPHD, the majority of patients (64%) presented initially with combined deficits at baseline examination, whereas isolated deficiencies (36%) were less prevalent. Among all patients with GH deficiency, TSH, ACTH, FSH/LH, and ADH deficiencies were present in 94%, 74%, 44%, and 9% of patients, respectively. Patients with CPHD were diagnosed at a younger age (4.9 (8.4) vs. 11.6 (4.1), p<0.001, respectively) and had lower peak GH concentrations (0.4 (1.8) vs. 3.7 (2.9), p<0.001, respectively) than patients with IGHD. Patients with IGHD and CPHD had similar first-year growth responses (Δheight SD score of 0.55 (0.63) vs. 0.76 (0.71), respectively, p=0.45).

Conclusions We established the nature and timing of numerous hormonal deficits emerging over time. We also identified that the existence of CPHD did not hinder growth response.

Zusammenfassung

Ziel Ziel dieser Studie war es, die klinischen Merkmale von Patienten mit angeborenem kombiniertem Hypophysenhormonmangel (CPHD) zu identifizieren, die Wachstumsreaktionen von Patienten mit CPHD und isoliertem Wachstumshormonmangel (IGHD) im ersten Jahr zu bewerten und um die Auswirkungen anderer Hormonmängel auf die Wachstumsreaktion zu bestimmen.

Patienten und Methoden Diese retrospektive Studie wurde in vier tertiären Versorgungszentren in der Türkei durchgeführt. Die Aufzeichnungen von Patienten mit diagnostizierter CPHD (n=39) und IGHD (n=50) wurden gesammelt. Fälle mit erworbenen Läsionen oder chronischen Erkrankungen wurden nicht in die Studie aufgenommen. Die Daten werden als Median (Interquartilsbereich) angegeben.

Ergebnisse Unter den 39 Patienten (13 Mädchen; 33%), bei denen CPHD diagnostiziert wurde, zeigte die Mehrheit der Patienten (64%) zu Studienbeginn kombinierte Defizite, während isolierte Defizite (36%) seltener auftraten. Bei allen Patienten mit GH-Mangel lagen TSH, ACTH, FSH/LH und ADH-Mängel bei 94%, 74%, 44%, 9% der Patienten vor. Patienten mit CPHD wurden in einem jüngeren Alter diagnostiziert (4.9 (8.4) vs. 11.6 (4.1), p<0.001) und hatten niedrigere GH-Spitzenkonzentrationen (0.4 (1.8) vs. 3.7 (2.9), p<0.001) als Patienten mit IGHD. Patienten mit IGHD und CPHD zeigten im ersten Jahr ähnliche Wachstumsreaktionen ohne Geschwindigkeit (Δheight SD score von 0.55 (0.63) vs. 0.76 (0.71), p=0.45).

Schlussfolgerungen Wir haben die Art und den Zeitpunkt zahlreicher hormoneller Defizite bestimmt, die sich im Laufe der Zeit entwickeln. Wir haben auch festgestellt, dass das Vorhandensein von CPHD die Wachstumsgeschwindigkeit nicht behindert.

Key words

growth hormone - combined pituitary hormone deficiency - multiple pituitary hormone deficiency - PROP1 - CHD7

Schlüsselwörter

kombinierter Hypophysenhormonmangel - multipler Hypophysenhormonmangel - Wachstumshormon - PROP1 - CHD7

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