Cushings syndrome in paediatric age casuistic, evolution of investigation tests and treatment options in our institution throughout the last 20 years
Miguel Melo1, Ana Fagulha1, Isabel Paiva1, Joana Guimaraes1, Carla Baptista1, Fernando Gomes2, Francisco Belo2 & Manuela Carvalheiro1
Cushings syndrome is a rare disorder in children and adolescents. The diagnosis can be a challenge for the clinician, as its principal feature obesity is extremely common. We present three cases diagnosed in the last 20 years. The first one was a boy aged 17 that presented in 1984 with central obesity, acne, moon face with plethora, abdominal striae, easy bruising and skin atrophy. The investigations performed consisted in cortisol and ACTH plasma measurements (8/24 hours), low and high dose Dexamethasone Suppression Test (DST), and metyrapone test; the results were consistent with Cushings disease. A head CT scan did not show evidence of any pituitary lesion. A trans-sphenoidal (TS) surgical exploration was performed with removal of a micronodular lesion; histology confirmed it was a corticotrophinoma. Since then, this patient has been in clinical and biochemical remission. The second case is a girl investigated in 1997 when she was 17 years old for secondary amenorrhea, obesity, hirsutism, acne and purple striae. She had cortisol and ACTH plasma measurements (8/24 hours), low and high dose DST and a CRH test that confirmed the hypercortisolism and were suggestive of a pituitary cause. A pituitary MRI scan showed a probable microadenoma. Before TS removal of the adenoma, she was treated with metyrapone. Six months after surgery she resumed regular menses. A third patient, aged 14, presented with slow growth pattern, obesity, hirsutism, striae and amenorrhea in 2002. The investigation was similar to the second case and a pituitary MRI showed an 8 mm adenoma. After TS surgery, she had biochemical remission. One year after, she had recurrence of the disease and a second surgery was performed. Since then, she has showed consistent remission, resumed regular menses and became pregnant without medical help. None of these patients has hypopituitarism now. These cases illustrate the importance of a timed diagnosis, as it may allow total remission of the disease with preservation of anterior pituitary function, a factor of major importance at this age. We analyze the evolution of investigations and therapeutic options available in our institution.