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Ovarian failure in HAX1-deficient patients: is there a gender-specific difference in pubertal development in severe congenital neutropenia or Kostmann disease?
Umeå universitet, Medicinska fakulteten, Institutionen för klinisk vetenskap, Pediatrik.ORCID-id: 0000-0002-5456-2514
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2013 (engelsk)Inngår i: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 102, nr 1, s. 78-82Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

Aim Severe congenital neutropenia (SCN) is a rare disorder of myelopoiesis characterized by neutropenia, recurrent bacterial infections and a maturation arrest of the myelopoiesis in the bone marrow. Homozygous mutations in the HAX1 gene were described in patients with autosomal recessive SCN or Kostmann disease. Some of these patients display neurological disease. We noted, during the course of clinical management of patients with Kostmann disease, insufficient pubertal development in female patients, but not in our male patients. The study objective was to provide a detailed account of this phenotype and its possible relation to HAX1 mutations. Methods Detailed clinical histories and laboratory investigations of three patients with Kostmann disease belonging to the original kindred in northern Sweden described by Rolf Kostmann are reported. Results We report one male patient with normal puberty and two female patients with insufficient pubertal development. Elevated levels of LH and FSH were recorded in both patients. All three patients harbour the same p.Glu190X mutation in the HAX1 gene. Conclusions We show for the first time that female patients with Kostmann disease display primary gonadal insufficiency. This suggests a possible role for HAX1 in the development and/or function of the human ovary.

sted, utgiver, år, opplag, sider
2013. Vol. 102, nr 1, s. 78-82
Emneord [en]
HAX1 mutation, Kostmann disease, Ovarian failure, Severe congenital neutropenia
HSV kategori
Identifikatorer
URN: urn:nbn:se:umu:diva-64232DOI: 10.1111/apa.12050ISI: 000312313200027OAI: oai:DiVA.org:umu-64232DiVA, id: diva2:601369
Tilgjengelig fra: 2013-01-29 Laget: 2013-01-21 Sist oppdatert: 2019-04-01bibliografisk kontrollert

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