Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.

X-linked acro-gigantism (X-LAG) syndrome is a newly described disease caused by microduplications on chromosome Xq26.3 leading to copy number gain of GPR101. We describe the clinical progress of a sporadic male X-LAG syndrome patient with an Xq26.3 microduplication, highlighting the aggressive natural history of pituitary tumor growth in the absence of treatment. The patient first presented elsewhere aged 5 years 8 months with a history of excessive growth for >2 years. His height was 163 cm, his weight was 36 kg, and he had markedly elevated GH and IGF-1. MRI showed a non-invasive sellar mass measuring 32.5 × 23.9 × 29.1 mm. Treatment was declined and the family was lost to follow-up. At the age of 10 years and 7 months, he presented again with headaches, seizures, and visual disturbance. His height had increased to 197 cm. MRI showed an invasive mass measuring 56.2 × 58.1 × 45.0 mm, with compression of optic chiasma, bilateral cavernous sinus invasion, and hydrocephalus. His thyrotrope, corticotrope, and gonadotrope axes were deficient. Surgery, somatostatin analogs, and cabergoline did not control vertical growth and pegvisomant was added, although vertical growth continues (currently 207 cm at 11 years 7 months of age). X-LAG syndrome is a new genomic disorder in which early-onset pituitary tumorigenesis can lead to marked overgrowth and gigantism. This case illustrates the aggressive nature of tumor evolution and the challenging clinical management in X-LAG syndrome.

Physical activities in daily life and functional capacity compared to disease activity control in acromegalic patients: impact in self-reported quality of life.

OBJECTIVE: To evaluate the quality of life and its association with daily physical activity and disease control in acromegalic patients. SUBJECTS AND METHODS: A cross-sectional, case series study, composed of 42 patients recruited from the Neuroendocrinology Unit of the University Hospital of Brasilia. Level of physical activity was accessed by the International Physical Activity Questionnaire (IPAQ 6-short-form), which evaluates the weekly time spent on physical activity of moderate to vigorous intensity in different contexts of life. Quality of life was evaluated by The Medical Outcome Study Questionnaire Short Form (SF-36). Data was compared to growth hormone (GH) and insulin-like growth factor (IGF-1) levels. Students' t test and Fisher test were used, p < 0.05, SPSS 17.0. RESULTS: Twenty-two women, aged 51.33 ± 14.33 and 20 men, aged 46.2 ± 13.18 were evaluated. Arthralgia was present in 83% of cases. In men, the most common sites of pain were the knees (73%), spine (47% lumbar, and 53% thoracic and cervical segments), hands and wrists (40%). Higher scores on SF-36 were observed in patients with intermediate or high levels of physical activity, in the domains social functioning (75 CI 57.3-92.6), general health (75.5 CI 60.4-90.5), mental health (70 CI 57.8-82.1). CONCLUSIONS: In this study, the presence and severity of physical disability and pain were not associated with initial GH and IGF-1 levels or time of exposure to GH excess. However, the patients considered controlled, with normal a normal age-adjusted IGF-1, presented higher scores in SF-36, in physical and emotional domains, compared with patients with persistent hypersomatotrophism. These findings suggest benefits of metabolic control in self-reported quality of life.

Physical activities in daily life and functional capacity compared to disease activity control in acromegalic patients: impact in self-reported quality of life / Avaliação da atividade física na prática de vida diária comparada com o nível de atividade da doença em pacientes acromegálicos: impacto na percepção da qualidade de vida

OBJECTIVE: To evaluate the quality of life and its association with daily physical activity and disease control in acromegalic patients. SUBJECTS AND METHODS: A cross-sectional, case series study, composed of 42 patients recruited from the Neuroendocrinology Unit of the University Hospital of Brasilia. Level of physical activity was accessed by the International Physical Activity Questionnaire (IPAQ 6-short-form), which evaluates the weekly time spent on physical activity of moderate to vigorous intensity in different contexts of life. Quality of life was evaluated by The Medical Outcome Study Questionnaire Short Form (SF-36). Data was compared to growth hormone (GH) and insulin-like growth factor (IGF-1) levels. Students' t test and Fisher test were used, p < 0.05, SPSS 17.0. RESULTS: Twenty-two women, aged 51.33 ± 14.33 and 20 men, aged 46.2 ± 13.18 were evaluated. Arthralgia was present in 83% of cases. In men, the most common sites of pain were the knees (73%), spine (47% lumbar, and 53% thoracic and cervical segments), hands and wrists (40%). Higher scores on SF-36 were observed in patients with intermediate or high levels of physical activity, in the domains social functioning (75 CI 57.3-92.6), general health (75.5 CI 60.4-90.5), mental health (70 CI 57.8-82.1). CONCLUSIONS: In this study, the presence and severity of physical disability and pain were not associated with initial GH and IGF-1 levels or time of exposure to GH excess. However, the patients considered controlled, with normal a normal age-adjusted IGF-1, presented higher scores in SF-36, in physical and emotional domains, compared with patients with persistent hypersomatotrophism. These findings suggest benefits of metabolic control in self-reported quality of life.

OBJETIVO: Avaliar a qualidade de vida e sua associação com a prática de vida diária e controle metabólico em pacientes portadores de acromegalia. SUJEITOS E MÉTODOS: Estudo seccional de série de casos, composto por 42 pacientes recrutados na Unidade de Neuroendocrinologia do Hospital Universitário de Brasília. O nível de atividade física foi estimado pelo Questionário Internacional de Atividade Física (IPAQ-6), que avalia o tempo gasto semanalmente em atividades físicas que variam de intensidade em diferentes contextos de vida. A qualidade de vida foi avaliada pelo questionário SF-36. Os dados obtidos foram comparados aos níveis de hormônio do crescimento (GH) e fator de crescimento semelhante à insulina (IGF-1). Os testes t Students e Fisher foram aplicados e p < 0,05 foram considerados significativos, SPSS 17.0. RESULTADOS: Avaliaram-se 22 mulheres com idades de 51,33 ± 14,33 e 20 homens com idades de 46,2 ±13,18. Artralgia foi relatada em 83% dos pacientes. Em homens, os sítios de dor mais comuns foram os joelhos (73%), coluna vertebral (47% lombar, 53% segmentos torácico e cervical), mãos e quadris (40%). Os maiores escores no SF-36 foram observados em pacientes com níveis intermediário ou alto de atividade física, sobretudo nos domínios social (75 CI 57,3-92,6), saúde geral (75,5 CI 60,4-90,5), saúde mental (70 CI 57,8-82,1). CONCLUSÕES: A presença e a severidade do prejuízo no desempenho físico e dor não se associaram com Gh e IGF-1 no diagnóstico, tempo de exposição prévio à doença. Todavia, pacientes considerados controlados apresentaram melhores escores nos domínios físico e emocional, comparados com pacientes com hipersomatotrofismo persistente. Tais achados sugerem benefícios do controle metabólico na qualidade de vida.