Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)mat

R. A. Pfeiffer; A. Rauch; U. Trautmann; H. G. Dörr; O. Hiort; G. Scherer; G. Rösch; T. Papadopoulos; K. V. D. Hardt; E. Lachmann

doi:10.1007/s004310051052

Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)mat

R. A. Pfeiffer^*, A. Rauch, U. Trautmann, H. G. Dörr, O. Hiort, G. Scherer, G. Rösch, T. Papadopoulos, K. V. D. Hardt, E. Lachmann

^*Corresponding author for this work

Department of Pediatric and Adolescent Medicine

10 Citations (Scopus)

Abstract

We report on a male infant with ambiguous genitalia (scrotal hypospadias, sinus urogenitalis) trisomic for 8q23-ter and monosomic for 9p23-ter, who shared craniofacial and other abnormalities with either phenotype. Gonadal histology was nearly normal for age. Normal endocrinological findings and exclusion of mutations in SRY, androgen receptor and alpha-reductase genes point to supplementary gene(s) located in 9p2305-ter, haplo-insufficiency (by deletion) of which is expected to cause defective male morphogenesis. Conclusion This observation lends further support to the hypothesis that genetic factors are located at 9p23-ter which are involved in normal sex determination.

Original language	English
Journal	European Journal of Pediatrics
Volume	158
Issue number	3
Pages (from-to)	213-216
Number of pages	4
ISSN	0340-6199
DOIs	https://doi.org/10.1007/s004310051052
Publication status	Published - 1999

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

SDG 3 Good Health and Well-being
SDG 5 Gender Equality
SDG 10 Reduced Inequalities

Research Areas and Centers

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

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title = "Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)mat",

abstract = "We report on a male infant with ambiguous genitalia (scrotal hypospadias, sinus urogenitalis) trisomic for 8q23-ter and monosomic for 9p23-ter, who shared craniofacial and other abnormalities with either phenotype. Gonadal histology was nearly normal for age. Normal endocrinological findings and exclusion of mutations in SRY, androgen receptor and alpha-reductase genes point to supplementary gene(s) located in 9p2305-ter, haplo-insufficiency (by deletion) of which is expected to cause defective male morphogenesis. Conclusion This observation lends further support to the hypothesis that genetic factors are located at 9p23-ter which are involved in normal sex determination.",

author = "Pfeiffer, \{R. A.\} and A. Rauch and U. Trautmann and D{\"o}rr, \{H. G.\} and O. Hiort and G. Scherer and G. R{\"o}sch and T. Papadopoulos and \{V. D. Hardt\}, K. and E. Lachmann",

year = "1999",

doi = "10.1007/s004310051052",

language = "English",

volume = "158",

pages = "213--216",

journal = "European Journal of Pediatrics",

issn = "0340-6199",

publisher = "Springer Science and Business Media Deutschland GmbH",

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TY - JOUR

T1 - Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)mat

AU - Pfeiffer, R. A.

AU - Rauch, A.

AU - Trautmann, U.

AU - Dörr, H. G.

AU - Hiort, O.

AU - Scherer, G.

AU - Rösch, G.

AU - Papadopoulos, T.

AU - V. D. Hardt, K.

AU - Lachmann, E.

PY - 1999

Y1 - 1999

N2 - We report on a male infant with ambiguous genitalia (scrotal hypospadias, sinus urogenitalis) trisomic for 8q23-ter and monosomic for 9p23-ter, who shared craniofacial and other abnormalities with either phenotype. Gonadal histology was nearly normal for age. Normal endocrinological findings and exclusion of mutations in SRY, androgen receptor and alpha-reductase genes point to supplementary gene(s) located in 9p2305-ter, haplo-insufficiency (by deletion) of which is expected to cause defective male morphogenesis. Conclusion This observation lends further support to the hypothesis that genetic factors are located at 9p23-ter which are involved in normal sex determination.

AB - We report on a male infant with ambiguous genitalia (scrotal hypospadias, sinus urogenitalis) trisomic for 8q23-ter and monosomic for 9p23-ter, who shared craniofacial and other abnormalities with either phenotype. Gonadal histology was nearly normal for age. Normal endocrinological findings and exclusion of mutations in SRY, androgen receptor and alpha-reductase genes point to supplementary gene(s) located in 9p2305-ter, haplo-insufficiency (by deletion) of which is expected to cause defective male morphogenesis. Conclusion This observation lends further support to the hypothesis that genetic factors are located at 9p23-ter which are involved in normal sex determination.

UR - https://www.scopus.com/pages/publications/0033003575

U2 - 10.1007/s004310051052

DO - 10.1007/s004310051052

M3 - Journal articles

C2 - 10094441

AN - SCOPUS:0033003575

SN - 0340-6199

VL - 158

SP - 213

EP - 216

JO - European Journal of Pediatrics

JF - European Journal of Pediatrics

IS - 3

ER -

Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)mat

Abstract

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