Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes

SUMMARY Congenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory defects, being ABCC8/KCNJ11 the most commonly affected genes. Therapeutic options include diazoxide, somatostatin analogues and surgery, which is curative in focal CHI. We report the case of two siblings (born two years apart) that presented themselves with hypoketotic hyperinsulinemic persistent hypoglycemias during neonatal period. The diagnosis of diffuse CHI due to an ABCC8 compound mutation (c.3576delG and c.742C>T) was concluded. They did not benefit from diazoxide therapy (or pancreatectomy performed in patient number 1) yet responded to somatostatin analogues. Patient number 1 developed various neurological deficits (including epilepsy), however patient number 2 experienced an entirely normal neurodevelopment. We believe this case shows how previous knowledge of the firstborn sibling's disease contributed to a better and timelier medical care in patient number 2, which could potentially explain her better neurological outcome despite their same genotype.

Tratamiento de la criptorquidia bilateral en el adulto: revisión, a propósito de dos casos clínicos / The Management of Bilateral Cryptorchidism in the Adult Man. Report of Two Cases

OBJETIVO: La criptorquidia es una patología característica del recién nacido y la infancia, siendo raramente identificada en el hombre adulto. En el articulo hacemos una revisión del diagnostico y tratamiento de la patología en el hombre adulto. MÉTODOS: Se presentan los casos de dos hombres adultos con criptorquidia bilateral congénita con diagnostico tardío en la consulta de urología. Realizamos una revisión del manejo diagnóstico y terapéutico de esta patología de la diferenciación genital masculina, en la edad adulta, con base en la búsqueda bibliográfica en Pubmed. CONCLUSIONES: Con la cirugía laparoscópica, el riesgo quirúrgico del diagnóstico y tratamiento de la criptorquidia en el adulto no difiere del de la infancia. El manejo quirúrgico es determinado por la localización del testículo en la palpación inguinal, el riesgo de tumor testicular y por la presencia ó no de una gónada atrófica a la exploración. El manejo de los hombres se complementa con la optimización del status hormonal y de la preservación de la fertilidad

OBJECTIVE: Undescended testis or cryptorchidism is a pathology usually presenting in the newborn or during childhood, rarely diagnosed in the adult man. This article pretends to perform a review of its management in the adulthood. METHODS: We present two cases of man with bilateral congenital cryptorchidism diagnosed in the adult. We made a review of the management of this condition in the adult male, based in a research performed in PubMed database. Coclusions: With the use of laparoscopy in the management of men with cryptorchidism, the diagnostic and therapeutic approach in this pathology doesn't differ from that used in childhood. Surgical management is based in the localization of the testis in physical exploration, the risk of testicular cancer and the viability of the gonad in its exploration. Hormonal replacement therapy and fertility preservation techniques should be offered in selected cases to optimize patient health and desires