Incomplete androgen insensitivity

Andrea Luczay; János Sólyom; Olaf Hiort; Éva Szabó; Matild Dobos; Zoltán Jenovári; György Fekete

Incomplete androgen insensitivity

Andrea Luczay^*, János Sólyom, Olaf Hiort, Éva Szabó, Matild Dobos, Zoltán Jenovári, György Fekete

^*Corresponding author for this work

Clinic of Pediatric and Adolescent Medicine

Semmelweis University

Abstract

In the androgen insensitivity syndrome (AIS) the afdrogen effect is decreased in the fetus and the youth despite the adequate testosterone production. Usually the mutation of the androgen receptor is responsible for the disease. In the presented case the external genitalia were similar to female genitalia but masses were palpable in the labioscrotal fold. The karyotype was 46,XY. There was no increase in the testosteron level during the first three months of life. The stimulation test by stanazolol and the androgen receptor gene analysis verified the androgen insensitivity. The mutation was absent in the mother's leukocytes. This fact makes the genetic advising difficult in this family.

Translated title of the contribution	Inkomplett androgéninszentzitivitás szindróma
Original language	English
Journal	Orvosi Hetilap
Volume	147
Issue number	37
Pages (from-to)	1805-1807
Number of pages	3
ISSN	0030-6002
Publication status	Published - 17.09.2006

Research Areas and Centers

Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Cite this

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title = "Incomplete androgen insensitivity",

abstract = "In the androgen insensitivity syndrome (AIS) the afdrogen effect is decreased in the fetus and the youth despite the adequate testosterone production. Usually the mutation of the androgen receptor is responsible for the disease. In the presented case the external genitalia were similar to female genitalia but masses were palpable in the labioscrotal fold. The karyotype was 46,XY. There was no increase in the testosteron level during the first three months of life. The stimulation test by stanazolol and the androgen receptor gene analysis verified the androgen insensitivity. The mutation was absent in the mother's leukocytes. This fact makes the genetic advising difficult in this family.",

author = "Andrea Luczay and J{\'a}nos S{\'o}lyom and Olaf Hiort and {\'E}va Szab{\'o} and Matild Dobos and Zolt{\'a}n Jenov{\'a}ri and Gy{\"o}rgy Fekete",

year = "2006",

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TY - JOUR

T1 - Incomplete androgen insensitivity

AU - Luczay, Andrea

AU - Sólyom, János

AU - Hiort, Olaf

AU - Szabó, Éva

AU - Dobos, Matild

AU - Jenovári, Zoltán

AU - Fekete, György

PY - 2006/9/17

Y1 - 2006/9/17

N2 - In the androgen insensitivity syndrome (AIS) the afdrogen effect is decreased in the fetus and the youth despite the adequate testosterone production. Usually the mutation of the androgen receptor is responsible for the disease. In the presented case the external genitalia were similar to female genitalia but masses were palpable in the labioscrotal fold. The karyotype was 46,XY. There was no increase in the testosteron level during the first three months of life. The stimulation test by stanazolol and the androgen receptor gene analysis verified the androgen insensitivity. The mutation was absent in the mother's leukocytes. This fact makes the genetic advising difficult in this family.

AB - In the androgen insensitivity syndrome (AIS) the afdrogen effect is decreased in the fetus and the youth despite the adequate testosterone production. Usually the mutation of the androgen receptor is responsible for the disease. In the presented case the external genitalia were similar to female genitalia but masses were palpable in the labioscrotal fold. The karyotype was 46,XY. There was no increase in the testosteron level during the first three months of life. The stimulation test by stanazolol and the androgen receptor gene analysis verified the androgen insensitivity. The mutation was absent in the mother's leukocytes. This fact makes the genetic advising difficult in this family.

UR - http://www.scopus.com/inward/record.url?scp=34748874638&partnerID=8YFLogxK

M3 - Journal articles

C2 - 17131800

AN - SCOPUS:34748874638

SN - 0030-6002

VL - 147

SP - 1805

EP - 1807

JO - Orvosi Hetilap

JF - Orvosi Hetilap

IS - 37

ER -

Incomplete androgen insensitivity

Abstract

Research Areas and Centers

UN SDGs

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