scholarly journals Gonadal Pathology and Tumor Risk in Relation to Clinical Characteristics in Patients with 45,X/46,XY Mosaicism

2011 ◽  
Vol 96 (7) ◽  
pp. E1171-E1180 ◽  
Author(s):  
M. Cools ◽  
J. Pleskacova ◽  
H. Stoop ◽  
P. Hoebeke ◽  
E. Van Laecke ◽  
...  
Keyword(s):  
Gonadal Differentiation ◽  
Clinical Markers ◽  
Hormone Production ◽  
Sex Development ◽  
Tumor Risk ◽  
Development Teams ◽  
Gonadal Histology ◽  
Differentiation Pattern ◽  
Malignant Germ Cell Tumor ◽  
Gonadal Biopsy

Abstract Context: Gonadectomy is avoided whenever possible in boys with 45,X/46,XY. However, no clinical markers are currently available to guide clinicians in predicting gonadal tumor risk or hormone production. Objective: The objective of the study was to test the hypothesis that gonadal histology and risk for development of a malignant germ cell tumor are reflected by the clinical presentation of a 45,X/46,XY individual. Design: The design of the study was the correlation of clinical data [external masculinization score (EMS), pubertal outcome] with pathology data (gonadal phenotype, tumor risk). Setting: This was a multicenter study involving two multidisciplinary disorder of sex development teams. Patients: Patients included genetically proven 45,X/46,XY (and variants) cases, of whom at least one gonadal biopsy or gonadectomy specimen was available, together with clinical details. Interventions: Patients (n = 48) were divided into three groups, based on the EMS. Gonadal histology and tumor risk were assessed on paraffin-embedded samples (n = 87) by morphology and immunohistochemistry on the basis of established criteria. Main Outcome Measures: Gonadal differentiation and tumor risk in the three clinical groups were measured. Clinical outcome in patients with at least one preserved gonad was also measured. Results: Tumor risk in the three groups was significantly related to the gonadal differentiation pattern (P < 0.001). In boys, hormone production was sufficient and was not predicted by the EMS. Conclusions: The EMS reflects gonadal differentiation and tumor risk in patients with 45,X/46,XY. In boys, testosterone production is often sufficient, but strict follow-up is warranted because of malignancy risk, which appears inversely related to EMS. In girls, tumor risk is limited but gonads are not functional, making gonadectomy the most reasonable option.

Cytogenetic Spectrum of Ovotesticular Difference of Sex Development (OT DSD) among a Large Cohort of DSD Patients and Literature Review

2019 ◽  
Vol 13 (5-6) ◽  
pp. 221-227
Author(s):  
Mona K. Mekkawy ◽  
Alaa K. Kamel ◽  
Nabil Dessouky ◽  
Mohamed Elgharbawy ◽  
Inas Mazen
Keyword(s):  
Literature Review ◽  
Sex Chromosome ◽  
Genetic Disorder ◽  
Large Cohort ◽  
Fish Analysis ◽  
Imaging Studies ◽  
Live Births ◽  
Sex Development ◽  
Gonadal Biopsy ◽  
Combination Frequencies

Ovotesticular difference of sex development (OT DSD) is a rare genetic disorder with an incidence of about 1/100,000 live births. The majority of OT DSD patients show a 46,XX karyotype, others may have 46,XX/46,XY chimerism or exhibit various mosaic sex chromosome combinations, and less commonly they may have a 46,XY karyotype. The aim of this work is to report the clinical, pathological, and karyotypic variations in OT DSD patients diagnosed among a large cohort of DSD patients. The study included 10 patients thoroughly evaluated for clinical, genital, and hormonal abnormalities and subjected to imaging studies, laparoscopy with gonadal biopsy, karyotype, and FISH analysis. The current study revealed a greater percentage of mosaic cell line combinations than previously reported and showed variable cytogenetic abnormalities, including the rare isodicentric (Y)(p11.32) abnormality and X;Y translocation. The study also revealed a unique pattern of gonadal type and combination frequencies. To our knowledge, this is the first study on OT DSD patients among a large cohort of DSD patients in Egypt and the Middle East.

Tumor Risk in Disorders of Sex Development

2010 ◽  
Vol 4 (4-5) ◽  
pp. 259-269 ◽  
Author(s):  
J. Pleskacova ◽  
R. Hersmus ◽  
J.W. Oosterhuis ◽  
B.A. Setyawati ◽  
S.M. Faradz ◽  
...  
Keyword(s):  
Disorders Of Sex Development ◽  
Sex Development ◽  
Tumor Risk

FOXL2 and SOX9 as parameters of female and male gonadal differentiation in patients with various forms of disorders of sex development (DSD)

2008 ◽  
Vol 215 (1) ◽  
pp. 31-38 ◽  
Author(s):  
R Hersmus ◽  
N Kalfa ◽  
B de Leeuw ◽  
H Stoop ◽  
JW Oosterhuis ◽  
...  
Keyword(s):  
Disorders Of Sex Development ◽  
Gonadal Differentiation ◽  
Sex Development

scholarly journals Tumor risk in disorders of sex development (DSD)

2007 ◽  
Vol 21 (3) ◽  
pp. 480-495 ◽  
Author(s):  
Leendert H.J. Looijenga ◽  
Remko Hersmus ◽  
J. Wolter Oosterhuis ◽  
Martine Cools ◽  
Stenvert L.S. Drop ◽  
...  
Keyword(s):  
Disorders Of Sex Development ◽  
Sex Development ◽  
Tumor Risk

Inter-Tissue Gonosomal Mosaicism in Patients with Disorders of Sex Development, Associated with Abnormalities of Gonadal Differentiation

2021 ◽  
Vol 57 (11) ◽  
pp. 1312-1321
Author(s):  
N. V. Oparina ◽  
N. Yu. Raygorodskaya ◽  
O. Yu. Latyshev ◽  
L. N. Samsonova ◽  
E. A. Volodko ◽  
...  
Keyword(s):  
Disorders Of Sex Development ◽  
Gonadal Differentiation ◽  
Sex Development

Normal and abnormal sexual differentiation

2020 ◽  
pp. 2435-2448
Author(s):  
S. Faisal Ahmed ◽  
Angela K. Lucas-Herald
Keyword(s):  
Sexual Differentiation ◽  
Fetal Development ◽  
Sex Chromosome ◽  
Disorders Of Sex Development ◽  
Androgen Insensitivity Syndrome ◽  
Dependent Manner ◽  
Hormone Production ◽  
Concentration Dependent Manner ◽  
Sex Development ◽  
Partial Androgen Insensitivity Syndrome

Human sex development follows an orderly sequence of embryological events coordinated by a cascade of gene expression and hormone production in a time- and concentration-dependent manner. Underpinning the entire process of fetal sex development is the simple mantra: sex chromosomes (XX or XY) dictate the gonadotype (ovary or testis), which then dictates the somatotype (female or male phenotype). The constitutive sex in fetal development is female. Disorders of sex development (DSD) can be classified into three broad categories based on the knowledge of the karyotype: sex chromosome abnormality (e.g. X/XY, mixed gonadal dysgenesis); XX DSD (e.g. congenital adrenal hyperplasia); XY DSD (e.g. partial androgen insensitivity syndrome).

Normal and abnormal sexual differentiation

2010 ◽  
pp. 1963-1975 ◽  
Author(s):  
I.A. Hughes
Keyword(s):  
Gene Expression ◽  
Sex Chromosomes ◽  
Sexual Differentiation ◽  
Dependent Manner ◽  
Hormone Production ◽  
Concentration Dependent Manner ◽  
Fetal Sex ◽  
Entire Process ◽  
Sex Development ◽  
Male Phenotype

Human sex development follows an orderly sequence of embryological events coordinated by a cascade of gene expression and hormone production in a time- and concentration-dependent manner. Underpinning the entire process of fetal sex development is the simple mantra: sex chromosomes (XX or XY) dictate the gonadotype (ovary or testis), which then dictates the somatotype (female or male phenotype)....

scholarly journals Multifunctional role of steroidogenic factor 1 and disorders of sex development

2011 ◽  
Vol 55 (8) ◽  
pp. 607-612 ◽  
Author(s):  
Maricilda Palandi de Mello ◽  
Emerson Salvador de Souza França ◽  
Helena Campos Fabbri ◽  
Andréa Trevas Maciel-Guerra ◽  
Gil Guerra-Júnior
Keyword(s):  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Gonadal Differentiation ◽  
Steroidogenic Factor 1 ◽  
Functional Roles ◽  
Secondary Sexual Characteristics ◽  
Delayed Onset ◽  
Sex Development ◽  
Sexual Characteristics

Disorders of sex development (DSD) involve several conditions that result from abnormalities during gonadal determination and differentiation. Some of these disorders may manifest at birth by ambiguous genitalia; others are diagnosed only at puberty, by the delayed onset of secondary sexual characteristics. Sex determination and differentiation in humans are processes that involve the interaction of several genes such as WT1, NR5A1, NR0B1, SOX9, among others, in the testicular pathway, and WNT4, DAX1, FOXL2 and RSPO1, in the ovarian pathway. One of the major proteins in mammalian gonadal differentiation is the steroidogenic nuclear receptor factor 1 (SF1). This review will cover some of the most recent data on SF1 functional roles and findings related to mutations in its coding gene, NR5A1.

Ovotesticular disorder of sex development with unusual karyotype: patient report

2015 ◽  
Vol 28 (5-6) ◽  
Author(s):  
Georgette Beatriz Paula ◽  
Juliana Gabriel Ribeiro Andrade ◽  
Guilherme Guaragna-Filho ◽  
Letícia Esposito Sewaybricker ◽  
Márcio Lopes Miranda ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Single Case ◽  
Patient Report ◽  
Disorder Of Sex Development ◽  
Second Child ◽  
Sex Development ◽  
Sex Assignment ◽  
Male Sex ◽  
Gonadal Biopsy ◽  
The Right

AbstractOvotesticular disorder of sex development (OT-DSD) (true hermaphroditism) is an anatomopathological diagnosis based on the findings of testicular and ovarian tissues in the same subject, in the same gonad (ovotestis), or in separate gonads. OT-DSD is a rare cause of sex ambiguity, and the most common karyotype is 46,XX; mosaics and chimeras are found only in 10%–20%.To report a case of an OT-DSD patient with a rare karyotype constitution.A 2-month-old child with male sex assignment was referred to our clinic for investigation of sex ambiguity. He was the second child of healthy unrelated parents; pregnancy and labor were uneventful. On physical examination, he had a 2.3-cm phallus and perineal hypospadias (Prader grade III); the right gonad was in the labioscrotal fold and the left was found in the inguinal channel. Karyotype was 46,XX/47,XXY/48,XXYY. Anatomopathological examination of gonads revealed right testis and left ovotestis. The male sex assignment was maintained; the child underwent left gonadectomy, removal of Mullerian structures and urethroplasty.A thorough revision of literature revealed a single case of OT-DSD with the same chromosome constitution. Gonadal biopsy is necessary to establish diagnosis in cases of sex chromosome mosaicism.

Adrenocorticotropin Production by a Mammary Carcinoma

1977 ◽  
Vol 35 ◽  
pp. 462-463
Author(s):  
K.S. McCarty ◽  
N.R. Wallace ◽  
W. Litaker ◽  
S. Wells ◽  
G. Eisenbarth
Keyword(s):  
Adrenocorticotropic Hormone ◽  
Small Cell ◽  
Hormone Production ◽  
Carcinoma Of The Breast ◽  
Ectopic Acth ◽  
Ultrastructural Studies ◽  
Subcutaneous Metastases ◽  
Ectopic Acth Production ◽  
The Right ◽  
Pituitary Carcinomas

The production of adrenocorticotropic hormone by non-pituitary carcinomas has been documented in several tumors, most frequently small cell carcinoma of the lung, islet cell carcinomas of the pancreas, thymomas and carcinoids. Electron microscopy of these tumors reveals typical membrane-limited "neurosecretory" granules. Confirmation of the granules as adrenocorticotropin (ACTH) requires the use of OsO4 as a primary fixative to give the characteristic cored granule appearance in conjunction with immunohistochemical demonstration of the hormone peptide. Because of the rarity of ectopic ACTH production by mammary carcinomas and the absence of appropriate ultrastructural studies in the two examples of such ectopic hormone production in the literature of which we are aware (1,2), we present biochemical and ultrastructural data from a carcinoma of the breast with apparent ACTH production.The patient had her primary tumor in the right breast in 1969. The tumor recurred as visceral and subcutaneous metastases in 1976 and again in 1977.

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