Abstract

To present the diagnosis processes, clinical findings, and long-term follow-up of patients with MPHD. Between 1999 and 2015, patients diagnosed with MPHD were evaluated. Clinical presentation, anthropometry, imaging studies, and clinical evolution were analyzed. Hormone status was evaluated, including growth hormone (GH), thyroid-stimulating hormone (TSH), adrenocorticotropic hormone (ACTH), follicle-stimulating hormone/luteinizing hormone (FSH/LH), and prolactin (PRL). Data were assessed using the student's t-test and the Mann-Whitney U test. Spearman's correlation was used for correlations. A p-value < 0.05 was considered statistically significant. Forty-five patients were included; 55.6% were male, the mean age at presentation was 5.6 ± 3.9 (0-14.4) years, and the median bone age was 3.5 ± 2.3 (0.5-11) years. At admission, GH deficiency was found in 88.9% of the cases, TSH deficiency in 77.8%, ACTH deficiency in 33.3%, FSH/LH deficiency in 22.2%, and PRL deficiency in 17.8%. During the follow-up, 62% of the cases added other hormone deficiencies. The mean follow-up period was 9.18 ± 3.6 (3.02-17.2) years. Patients with MPHD have very different clinical presentations, with GH and TSH deficiency being the most common in this study. Additional hormonal deficiencies can occur even years after the initial diagnosis and our results demonstrate that genetic height potential is achieved with GH treatment.

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