Introduction:

congenital hypopituitarism (CH) is an uncommon cause of pituitary insufficiency that may present with deficiency of one or more pituitary hormones. Early diagnosis and timely treatment are essential to prevent severe sequelae in growth, pubertal development, and quality of life.

Objective:

to describe the clinical, biochemical, imaging, and therapeutic characteristics of patients with CH followed at the Pereira Rossell Hospital between 2012 and 2022.

Methods:

descriptive, retrospective study. Patients aged 0 to 21 years with a diagnosis of CH were included. Clinical, hormonal, and imaging variables were analyzed. Descriptive statistics and Fisher’s exact test (p < 0.05) were used.

Results:

twelve patients were included, with equal sex distribution. Nine were diagnosed before six months of age, mainly due to hypoglycemia and jaundice. In school age, the most frequent presentation was short stature. Combined hormonal deficiency predominated (83.3%), with the thyrotropic and corticotropic axes being the most affected (83.3%), followed by the somatotropic axis (75%). Umbilical cord TSH was normal in 91.7% of patients. Among those evaluated by magnetic resonance imaging, 91% showed structural abnormalities, most commonly hypoplastic or absent pituitary gland and ectopic neurohypophysis. No genetic studies were performed. One death was documented.

Conclusions:

CH presented with nonspecific symptoms during the neonatal period, making early diagnosis challenging. Hypoglycemia was significantly associated with early age at diagnosis. Hormonal deficiency was predominantly combined. Imaging abnormalities were frequent. The need for more sensitive diagnostic strategies is emphasized, including expanded newborn screening and genetic studies.

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