Teresa Borges

Pubertad precoz periférica: disgenesia gonadal completa 46 XY

Despite standard clinical definitions and availability of diagnostic tests for precocious puberty, an intensive and structured investigation is needed in order to diagnose the aetiology in particular cases. A 4-year-old, phenotypically female child was referred to paediatric endocrinology consultation for premature pubarche and thelarche. There was an acceleration of growth velocity with high levels of estradiol and testosterone, and prepubertal FSH and LH measurements. Investigation showed bilateral gonadoblastoma as the cause of the peripheral precocious puberty. Genetic studies revealed 46 XY karyotype with mutation c.89G> T (p.Arg30Ile) in exon 1 of the SRY gene, confirming the diagnosis of complete gonadal dysgenesis. Disorders of sexual differentiation must be considered in the approach and investigation of peripheral precocious puberty, especially in the presence of ovarian tumours, such as gonadoblastoma and dysgerminoma.

Addison's disease - the difficulty of diagnosis

Introduction: Primary adrenal insufficiency is a rare disease, especially in pediatric age. Case report: We report the case of a teenager with astenia with four months’ evolution, causing repeated visits to the emergency department during the previous month due gastrointestinal symptoms and a ten kilograms weight loss. In admission the patient had a reasonable general condition, hydrated and without cutaneous hyperpigmentation. Laboratory results showed hyponatremia, increased levels of corticotropin with normal cortisol levels, increased levels of renin with decreased aldosterone levels and presence of antissuprarrenal antibodies, allowing the diagnosis of autoimmune primary adrenal insufficiency. The boy started treatment with hydrocortisone and fludrocortisone with favorable response. Discussion/conclusions: The diagnosis of Addison’s disease requires a high degree of suspicion due its unspecific symptomatology. This disease often presents gastrointestinal symptoms. Thus, towards a patient with hyponatremia accompanied by constitutional and gastrointestinal symptoms, we must always consider this diagnosis.

Síndrome de Kallmann… será possível um diagnóstico mais precoce?

RESUMO O atraso pubertario representa uma causa frequente de referenciacao a consulta de Endocrinologia Pediatrica. A sua etiologia e variada, classificando-se em hipogonadismo hipogonadotrofico ou hipergonadotrofico, consoante exista diminuicao ou aumento das gonadotrofinas. A Sindrome de Kallmann e uma forma rara de hipogonadismo hipogonadotrofico e caracteriza-se pela sua associacao a anosmia ou hiposmia. E causada por um defeito na migracao dos neuronios que produzem a GnRH e dos que formam os nervos olfativos, cuja origem embriologica e comum. A doenca afeta apenas a secrecao de gonadotrofinas, sendo as restantes hormonas hipofisarias produzidas normalmente. Esta frequentemente associada a outras malformacoes que podem ser um elemento fundamental para um diagnostico precoce. Os autores apresentam tres casos clinicos de Sindrome de Kallmann e malformacoes associadas.