RESUMO
The Van Wyk-Grumbach syndrome (VWGS) is characterized by severe hypothyroidism, peripheral precocious puberty, delayed bone age, hyperestrogenism, prepubertal luteinizing hormone, and elevated follicle-stimulating hormone. Patients with Down syndrome have a high susceptibility and prevalence of thyroid disorders. However, the coexistence of VWGS and trisomy 21 is uncommon. We present a case of a 5-year-old Mexican girl with Down syndrome, severe autoimmune hypothyroidism, pituitary enlargement, hyperprolactinemia, peripheral precocious puberty, multiple ovarian cysts, and delayed bone age, with a clinical diagnosis of VWGS. The patient presented with a remission of these manifestations after treatment with levothyroxine. Patients with Down syndrome, precocious puberty, hyperestrogenism, prepuberal luteinizing hormone, high follicle-stimulating hormone, and delayed bone age should be evaluated with a thyroid profile due to the possibility of VWGS.
RESUMO
Sellar gangliocytomas (SGs) are rare, well-differentiated, low-grade neoplasias that commonly present along with a pituitary adenoma (PA). We describe a case of a 52-year-old woman with a 2-year history of headache, body weight increase, and recent onset of arterial hypertension and type 2 diabetes mellitus. Work-up tests revealed a normal hypophyseal profile, except for mild ACTH elevation, and a sellar mass on magnetic resonance imaging (MRI). A diagnosis of an enlarging pituitary macroadenoma was established, and to prevent symptom progression, the tumour was resected. Pathology showed 2 cell populations: ganglion and corticotrope cells. Three years after surgery, the patient no longer had a headache but persisted with arterial hypertension and type 2 diabetes mellitus. A literature review produced 207 cases of SGs. They typically present in women at 40 years of age and the most common clinical presentation are symptoms of acromegaly. Of the documented cases, 74 and 93% were treated with surgery alone or combined treatments (radiotherapy, radiosurgery, or pharmacotherapy), respectively. The majority of deaths associated with a SG came from the first half of the 20th century. In conclusion, this patient presented with a silent SG with likely pituitary hyperplasia. SGs are a challenging diagnosis, have a benign course, and may provide insights into PA tumourigenesis.
RESUMO
Paciente mujer de 15 años referida por diagnóstico de hipotiroidismo e hiperprolactinemia, con tratamiento irregular para ambas patologías, quien presentó pérdida de conocimiento en dos oportunidades, motivo por el cual se le indicó resonancia magnética (RM) de cerebro, en la cual se evidenció imagen tumoral hipofisaria que desplazaba el quiasma óptico. Se le indicó tratamiento con levotiroxina 50 ug por 1 semana, luego 100 ug diario. Los controles hormonales posteriores mostraron normalización, la RM de control evidenció disminución de tamaño de la imagen tumoral en aproximadamente 3 mm, sin repercusión en las estructuras supraselares o paraselares, con mejoría de cuadro clínico luego del tratamiento de sustitución con hormona tiroidea.
A 15 year-old woman with diagnosis of hypothyroidism and hyperprolactinemia had irregular treatment. She lost conscience twice and magnetic resonance (MR) was indicated. It showed image of pituitary tumor that displaced optic chiasm. She was prescribed levothyroxin 50 ug for one week and then 100 ug daily. Hormonal treatment produced normalization of hormonal values and magnetic resonance evidenced 3 mm tumor reduction without supraselar extension.