Disorders of sex development represent a large and heterogeneous group of diseases that have an important impact on physical and mental well-being of patients and their families. An early diagnosis and a multidisciplinary approach are fundamental to guarantee the highest standard of care. We describe a case of complete androgen insensitivity syndrome (CAIS) in a six-days-old female newborn brought to our Emergency Department for intestinal occlusion due to an incarcerated inguinal hernia. During the operation, male-appearing gonads were identified in both inguinal canals and the histology confirmed the testicular features. Blood tests validated the diagnosis. The diagnosis of CAIS is usually made during elective inguinal hernia repair or for delayed puberty. To our knowledge, this is the first case diagnosed in a neonatal urgent setting. Being able to immediately recognize this clinical picture, it allowed us to offer the best standard of care for the patient and the family.

Newborn with incarcerated inguinal hernia and complete androgen insensitivity syndrome

Mottadelli, Giulia;Zambaiti, Elisa
;
Virgone, Calogero;Gamba, Piergiorgio
2020

Abstract

Disorders of sex development represent a large and heterogeneous group of diseases that have an important impact on physical and mental well-being of patients and their families. An early diagnosis and a multidisciplinary approach are fundamental to guarantee the highest standard of care. We describe a case of complete androgen insensitivity syndrome (CAIS) in a six-days-old female newborn brought to our Emergency Department for intestinal occlusion due to an incarcerated inguinal hernia. During the operation, male-appearing gonads were identified in both inguinal canals and the histology confirmed the testicular features. Blood tests validated the diagnosis. The diagnosis of CAIS is usually made during elective inguinal hernia repair or for delayed puberty. To our knowledge, this is the first case diagnosed in a neonatal urgent setting. Being able to immediately recognize this clinical picture, it allowed us to offer the best standard of care for the patient and the family.
File in questo prodotto:
Non ci sono file associati a questo prodotto.
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11577/3339574
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 0
  • ???jsp.display-item.citation.isi??? 0
social impact