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Pregled bibliografske jedinice broj: 403627

TWO SIBLINGS WITH 9p MONOSOMY AND 4p TRISOMY, ASSOCIATED WITH NORMAL PUBERTAL DEVELOPMENT IN 46, XX PATIENT, AND SEX REVERSAL, POSTNATAL VIRILIZATION, TRUE HERMAPHRODITISM AND BILATERAL GONADOBLASTOMA IN 46, XY PATIENT


Dumic, Miroslav; Krnic, Nevena; Begovic, Davor; Barisic, Ingeborg; Stanjkler, Biserka; Batinica, Stipe
TWO SIBLINGS WITH 9p MONOSOMY AND 4p TRISOMY, ASSOCIATED WITH NORMAL PUBERTAL DEVELOPMENT IN 46, XX PATIENT, AND SEX REVERSAL, POSTNATAL VIRILIZATION, TRUE HERMAPHRODITISM AND BILATERAL GONADOBLASTOMA IN 46, XY PATIENT // Abstract book 2008 - The Endocrine Society's 90th Annual Meeting (San Francisco, 2008)
San Francisco (CA), Sjedinjene Američke Države, 2008. (poster, međunarodna recenzija, sažetak, stručni)


CROSBI ID: 403627 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
TWO SIBLINGS WITH 9p MONOSOMY AND 4p TRISOMY, ASSOCIATED WITH NORMAL PUBERTAL DEVELOPMENT IN 46, XX PATIENT, AND SEX REVERSAL, POSTNATAL VIRILIZATION, TRUE HERMAPHRODITISM AND BILATERAL GONADOBLASTOMA IN 46, XY PATIENT

Autori
Dumic, Miroslav ; Krnic, Nevena ; Begovic, Davor ; Barisic, Ingeborg ; Stanjkler, Biserka ; Batinica, Stipe

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
Abstract book 2008 - The Endocrine Society's 90th Annual Meeting (San Francisco, 2008) / - , 2008

Skup
Endocrine Society's 90th Annual Meeting

Mjesto i datum
San Francisco (CA), Sjedinjene Američke Države, 15.06.2008. - 18.06.2008

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
9p monosomy; 4p trisomy; true hermaphroditism; sex reversal

Sažetak
BACKGROUND The 9p deletion with 4p trisomy is a rare disorder, previously described in only 2 patients (1). Distal 9p monosomy is associated with 46, XY sex reversal due to loss of 9p sex-determining genes DMRT1 and DMRT2. So far, in only one del(9p) patient ovarian tissue was found (bilateral ovotestes) (2). We present 2 siblings with 9p monosomy and 4p trisomy. Their father is the healthy carrier of balanced 4p ; 9p translocation. CASE REPORTS Patient 1. is a 19-year-old female with 46, XX, der(9), t(4 ; 9)(p14p24) karyotype. Her features were consistent with del(9p) and dup(4p) syndromes (short stature, obesity, mental retardation, kyphoscoliosis, hypertonia, prominent forehead, wide nasal bridge, thin upper lip, long philtrum, irregular teeth, abnormal ears, short neck, flexion contractures, 11 pairs of ribs, hypoplastic scapulae). She had female external genitalia, normal pubertal development and regular periods. Patient 2. is a 6-month-old female with 46, XY, der(9), t(4 ; 9)(p14p24) karyotype found on amniocentesis and confirmed postnatally. She had normal female external genitalia and features in common with both the del(9p) and dup(4p) syndromes (flat occiput, midface hypoplasia, hypertelorism, flat nasal bridge, thin lips, short neck, kyphoscoliosis, widely spaced hypoplastic nipples, puffy hands and feet, hypoplastic nails, joint contractures, 11 pairs of ribs, hypoplastic scapulae and iliac wings, congenital heart disease, hypotonia, delayed developmental milestones and sex reversal). Laboratory findings at the age of 1 year revealed elevated gonadotropins and slightly elevated testosterone (FSH 36 IU/L /ref.1-4/, LH 8 IU/L /ref. 0.02-0.2/, T 0.3 nmol/L /ref.0.05-0.2/, E2 50 pmol /ref. 20-70/). Clitoral enlargement (1.8 cm) was noted and bilateral gonadectomy was performed. On histologic examination, the left gonad consisted of testicular tissue, epididymus and spermatic cord and the right gonad was comprised of ovarian tissue and Fallopian tube. Bilateral gonadoblastoma was found. The same chromosomal abnormalities were found in gonadal tissue. CONCLUSION Patient 2. is the first 46, XY, del(9p) female in which postnatal virilization occurred and in which different gonads (ovary and testis) separately developed. The possibility of development of gonadoblastoma in these patients prompt gonadectomy at an early age. The finding of diverse differentiation outcomes in siblings carrying the same 4p ; 9p translocation suggests the complex role of the 9p sex-determining genes.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Projekti:
108-0000000-0353 - Novi pristupi dijagnostici nasljednih bolesti (Begović, Davor, MZOS ) ( CroRIS)
108-0000000-0359 - Nasljedne endokrine bolesti u djece (Dumić, Miroslav, MZOS ) ( CroRIS)

Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb


Citiraj ovu publikaciju:

Dumic, Miroslav; Krnic, Nevena; Begovic, Davor; Barisic, Ingeborg; Stanjkler, Biserka; Batinica, Stipe
TWO SIBLINGS WITH 9p MONOSOMY AND 4p TRISOMY, ASSOCIATED WITH NORMAL PUBERTAL DEVELOPMENT IN 46, XX PATIENT, AND SEX REVERSAL, POSTNATAL VIRILIZATION, TRUE HERMAPHRODITISM AND BILATERAL GONADOBLASTOMA IN 46, XY PATIENT // Abstract book 2008 - The Endocrine Society's 90th Annual Meeting (San Francisco, 2008)
San Francisco (CA), Sjedinjene Američke Države, 2008. (poster, međunarodna recenzija, sažetak, stručni)
Dumic, M., Krnic, N., Begovic, D., Barisic, I., Stanjkler, B. & Batinica, S. (2008) TWO SIBLINGS WITH 9p MONOSOMY AND 4p TRISOMY, ASSOCIATED WITH NORMAL PUBERTAL DEVELOPMENT IN 46, XX PATIENT, AND SEX REVERSAL, POSTNATAL VIRILIZATION, TRUE HERMAPHRODITISM AND BILATERAL GONADOBLASTOMA IN 46, XY PATIENT. U: Abstract book 2008 - The Endocrine Society's 90th Annual Meeting (San Francisco, 2008).
@article{article, author = {Dumic, Miroslav and Krnic, Nevena and Begovic, Davor and Barisic, Ingeborg and Stanjkler, Biserka and Batinica, Stipe}, year = {2008}, pages = {545}, keywords = {9p monosomy, 4p trisomy, true hermaphroditism, sex reversal}, title = {TWO SIBLINGS WITH 9p MONOSOMY AND 4p TRISOMY, ASSOCIATED WITH NORMAL PUBERTAL DEVELOPMENT IN 46, XX PATIENT, AND SEX REVERSAL, POSTNATAL VIRILIZATION, TRUE HERMAPHRODITISM AND BILATERAL GONADOBLASTOMA IN 46, XY PATIENT}, keyword = {9p monosomy, 4p trisomy, true hermaphroditism, sex reversal}, publisherplace = {San Francisco (CA), Sjedinjene Ameri\v{c}ke Dr\v{z}ave} }
@article{article, author = {Dumic, Miroslav and Krnic, Nevena and Begovic, Davor and Barisic, Ingeborg and Stanjkler, Biserka and Batinica, Stipe}, year = {2008}, pages = {545}, keywords = {9p monosomy, 4p trisomy, true hermaphroditism, sex reversal}, title = {TWO SIBLINGS WITH 9p MONOSOMY AND 4p TRISOMY, ASSOCIATED WITH NORMAL PUBERTAL DEVELOPMENT IN 46, XX PATIENT, AND SEX REVERSAL, POSTNATAL VIRILIZATION, TRUE HERMAPHRODITISM AND BILATERAL GONADOBLASTOMA IN 46, XY PATIENT}, keyword = {9p monosomy, 4p trisomy, true hermaphroditism, sex reversal}, publisherplace = {San Francisco (CA), Sjedinjene Ameri\v{c}ke Dr\v{z}ave} }




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