scholarly journals Up-to-Date Clinical and Biochemical Workup of the Child and the Adolescent with a Suspected Disorder of Sex Development

2021 ◽  
pp. 279-290 ◽  
Author(s):  
Romina P. Grinspon ◽  
Sebastián Castro ◽  
Rodolfo A. Rey
Keyword(s):  
External Genitalia ◽  
Ambiguous Genitalia ◽  
Diagnostic Approach ◽  
Reproductive Hormone ◽  
Imaging Studies ◽  
Disorder Of Sex Development ◽  
Surgical Exploration ◽  
Sex Development ◽  
Internal Genitalia ◽  
17 Hydroxyprogesterone

Background: The suspicion of a disorder of sex development (DSD) often arises at birth, when the newborn presents with ambiguous genitalia, or even during prenatal ultrasound assessments. Less frequently, the aspect of the external genitalia is typically female or male, and the diagnosis of DSD may be delayed until a karyotype is performed for another health issue, or until pubertal age when a girl presents with absence of thelarche and/or menarche or a boy consults for gynaecomastia and/or small testes. Summary: In this review, we provide a practical, updated approach to clinical and hormonal laboratory workup of the newborn, the child, and the adolescent with a suspected DSD. We focus on how to specifically address the diagnostic approach according to the age and presentation. Key Message: We particularly highlight the importance of a detailed anatomic description of the external and internal genitalia, adequate imaging studies or surgical exploration, the assessment of reproductive hormone levels – especially testosterone, anti-Müllerian hormone, 17-hydroxyprogesterone, and gonadotropins – and karyotyping.

scholarly journals Pubertal development in 46,XY patients with NR5A1 mutations

Endocrine ◽  
2021 ◽  
Author(s):  
Isabel Mönig ◽  
Julia Schneidewind ◽  
Trine H. Johannsen ◽  
Anders Juul ◽  
Ralf Werner ◽  
...  
Keyword(s):  
Pubertal Development ◽  
External Genitalia ◽  
Ambiguous Genitalia ◽  
Gene Encoding ◽  
Steroidogenic Factor 1 ◽  
Sex Development ◽  
Sex Assignment ◽  
Internal Genitalia ◽  
Differences Of Sex Development ◽  
Pubertal Transition

Abstract Purpose Mutations in the NR5A1 gene, encoding the transcription factor Steroidogenic Factor-1, are associated with a highly variable genital phenotype in patients with 46,XY differences of sex development (DSD). Our objective was to analyse the pubertal development in 46,XY patients with NR5A1 mutations by the evaluation of longitudinal clinical and hormonal data at pubertal age. Methods We retrospectively studied a cohort of 10 46,XY patients with a verified NR5A1 mutation and describe clinical features including the external and internal genitalia, testicular volumes, Tanner stages and serum concentrations of LH, FSH, testosterone, AMH, and inhibin B during pubertal transition. Results Patients who first presented in early infancy due to ambiguous genitalia showed spontaneous virilization at pubertal age accompanied by a significant testosterone production despite the decreased gonadal volume. Patients with apparently female external genitalia at birth presented later in life at pubertal age either with signs of virilization and/or absence of female puberty. Testosterone levels were highly variable in this group. In all patients, gonadotropins were constantly in the upper reference range or elevated. Neither the extent of virilization at birth nor the presence of Müllerian structures reliably correlated with the degree of virilization during puberty. Conclusion Patients with NR5A1 mutations regardless of phenotype at birth may demonstrate considerable virilization at puberty. Therefore, it is important to consider sex assignment carefully and avoid irreversible procedures during infancy.

Cytogenetics and sex determination in man and mammals

1970 ◽  
Vol 2 (S2) ◽  
pp. 7-30 ◽  
Author(s):  
C. E. Ford
Keyword(s):  
Y Chromosome ◽  
External Genitalia ◽  
Mutant Gene ◽  
Normal Female ◽  
Human Female ◽  
Present Evidence ◽  
Male Development ◽  
Sex Development ◽  
Internal Genitalia ◽  
Male External Genitalia

SummarySex in man and probably throughout the class mammalia is normally determined by the presence of a Y chromosome (male) or its absence (female). The presence of genetic loci on both the long and the short arm of the X chromosome in double dose appears to be essential for the development of mature functional ovaries in the human female though a single X suffices in the female mouse.The development of masculine genital anatomy and phenotype is a consequence of prior formation of testes. In the absence of gonads of either kind, female internal and external genitalia are formed but secondary sex development fails. In rare human families a mutant gene suppresses the development of male external genitalia in 46, XY embryos but permits the development of testes and male internal genitalia. The external phenotype is normal female (syndrome of testicular feminization). A sex-linked mutant gene in the mouse has a similar effect.The locus or loci directly concerned with male development might lie wholly on the Y chromosome or might be located on another chromosome or chromosomes. In the latter case it (or they) must be repressed in the female and normally activated by a locus or loci on the Y chromosome in the male. Present evidence does not permit the exclusion of either possibility.

scholarly journals 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study

2014 ◽  
Vol 132 (6) ◽  
pp. 332-338 ◽  
Author(s):  
Rafael Fabiano Machado Rosa ◽  
Willy Francisco Bartel D'Ecclesiis ◽  
Raquel Papandreus Dibbi ◽  
Rosana Cardoso Manique Rosa ◽  
Patrícia Trevisan ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Turner Syndrome ◽  
Early Recognition ◽  
External Genitalia ◽  
Ambiguous Genitalia ◽  
Referral Hospital ◽  
Clinical Genetics ◽  
Sex Development ◽  
Genital Ambiguity ◽  
The Individual

CONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism.DESIGN AND SETTING: A retrospective study in a referral hospital in southern Brazil.METHODS: Our sample consisted of patients diagnosed at the clinical genetics service of a referral hospital in southern Brazil, from 1975 to 2012. Clinical and cytogenetic data were collected from the medical records.RESULTS: Fourteen patients were included in the sample, with ages at the first evaluation ranging from 2 days to 38 years. Nine of them had female sex of rearing and five, male. Regarding the external genitalia, most were ambiguous (n = 10). One patient presented male phenotype and was treated for a history of azoospermia, while three patients presented female phenotype, of whom two had findings of Turner syndrome and one presented secondary amenorrhea alone. Some findings of Turner syndrome were observed even among patients with ambiguous genitalia. None presented gonadal malignancy. One patient underwent surgical correction for genital ambiguity and subsequent exchange of sex of rearing. Regarding cytogenetics, we did not observe any direct correlation between percentages of cell lines and phenotype.CONCLUSIONS: 45,X/46,XY mosaicism can present with a wide variety of phenotypes resulting from the involvement of different aspects of the individual. All these observations have important implications for early recognition of these patients and their appropriate management.

Ambiguous Genitalia in a Newborn With 45,X/46,X,idic(Y) Ovotesticular Disorder of Sex Development

2009 ◽  
Vol 15 (7) ◽  
pp. 732-736 ◽  
Author(s):  
James Pascual ◽  
Leah McMann ◽  
Thomas Gallagher ◽  
Jordan Pinsker
Keyword(s):  
Ambiguous Genitalia ◽  
Disorder Of Sex Development ◽  
Sex Development

scholarly journals Ovotesticular Disorder of Sex Development: An Unusual Presentation

2019 ◽  
Vol 9 ◽  
pp. 34 ◽  
Author(s):  
Meltem Özdemir ◽  
Rasime Pelin Kavak ◽  
Ihsan Yalcinkaya ◽  
Kursat Guresci
Keyword(s):  
Unusual Case ◽  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Normal Male ◽  
Genital Organ ◽  
Rare Form ◽  
Disorder Of Sex Development ◽  
Breast Enlargement ◽  
Sex Development ◽  
Bilateral Breast Enlargement

Disorder of sex development is an inclusive term that refers to any problem where the genital organ is atypical in relation to chromosomes or gonads. Ovotesticular disorder of sex development, which is formerly known as “true hermaphroditism,” is the most rare form among all disorders of sex development in humans. It is characterized by the simultaneous presence of both ovarian and testicular tissues in the same individual and characteristically presents with ambiguous genitalia in neonates or infants. Herein, we present an unusual case of a 19-year-old individual with phenotypically nearly normal male genitalia who presented with the complaint of bilateral breast enlargement.

scholarly journals Leydig Cell Tumor in a Patient with 46,XX Disorder of Sex Development (DSD), Ovotesticular: A Case Report and a Review of the Literature

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Steffen Gretser ◽  
Maria-Noemi Welte ◽  
Frederik Roos ◽  
Jens Köllermann
Keyword(s):  
Leydig Cell ◽  
External Genitalia ◽  
Rare Condition ◽  
Leydig Cell Tumor ◽  
Cell Tumor ◽  
Mri Scan ◽  
Disorder Of Sex Development ◽  
Left Testicle ◽  
Sex Development ◽  
Atypical Development

Disorder of sex development (DSD) is a rare condition with atypical development of chromosomal, gonadal, or anatomical sex. It is classified in different subgroups based on the patient’s karyotype, gonadal dysgenesis, and the appearance of the internal and external genitalia. Within the subgroups, the risk for developing neoplasms varies a lot. Here, we report the case of a 41-year-old patient with disorder of sex development, showing a 46,XX karyotype with an ovotestis and the simultaneous manifestation of a Leydig cell tumor in the ovotestis. The patient initially presented with infertility, and a suspicious lesion of the left testicle was noted on MRI-Scan. Upon resection, a Leydig cell tumor and an ovotestis were diagnosed. Nongerm call tumors are rare in patients with DSD. We report a nongerm cell tumor in a patient with 46,XX DSD, ovotesticular. This shows that although 46,XX DSD, ovotesticular is known to have a low potential for germ cell neoplasia, nongerm cell tumors can develop and should be into account for the management of those patients.

XX male

2011 ◽  
pp. 1402-1403
Author(s):  
Dieter Meschede ◽  
Eberhard Nieschlag
Keyword(s):  
X Chromosome ◽  
Cytogenetic Analysis ◽  
External Genitalia ◽  
X Chromosomes ◽  
Disorder Of Sex Development ◽  
Conventional Cytogenetic Analysis ◽  
Sex Development ◽  
Male External Genitalia ◽  
Xx Males ◽  
Xx Male

This disorder is characterized by the combination of male external genitalia, testicular differentiation of the gonads, and an apparent 46,XX karyotype. Designation of the karyotype as 46,XX is based on conventional cytogenetic analysis, where the X chromosomes have an inconspicuous appearance. If molecular methods are applied, most XX males can be shown to have translocated Y-chromosomal material on the tip of one X chromosome. Strictly speaking, the karyotype of these patients should be written as 46,X,der(X)t(Xp;Yp). It has been suggested that this disorder be renamed ‘46,XX testicular disorder of sex development’ (1). The authors prefer to stay with the the less clumsy ‘XX male (syndrome)’.

Endocrine emergencies

2011 ◽  
Author(s):  
Gary Butler ◽  
Jeremy Kirk
Keyword(s):  
Diabetes Insipidus ◽  
Hormone Secretion ◽  
Ambiguous Genitalia ◽  
Adrenal Crisis ◽  
Disorder Of Sex Development ◽  
Inappropriate Antidiuretic Hormone Secretion ◽  
Antidiuretic Hormone Secretion ◽  
Sex Development ◽  
Accessible Information ◽  
Acute Diabetes

Introduction 304Diabetic ketoacidosis 306Hypoglycaemia 314Adrenal insufficiency–adrenal crisis 316Hypocalcaemia 318Hypercalcaemia 320Acute diabetes insipidus 322Syndrome of inappropriate antidiuretic hormone secretion (SIADH) 324Hyperthyroid crisis 326Hypothyroid coma 327Unclear sex–ambiguous genitalia (Disorder of Sex Development) (DSD) 328This section is intended to be brief, with readily accessible information that is needed in an endocrine emergency in an infant, child, or adolescent. Endocrine emergencies are rare, but because of this they are usually unexpected. Always take a few moments to assess the situation....

scholarly journals Child with ‘46, XX’ disorder of sex development: clues to diagnose aromatase deficiency

2019 ◽  
Vol 12 (12) ◽  
pp. e232575
Author(s):  
Saurav Shishir Agrawal ◽  
Partha Pratim Chakraborty ◽  
Anirban Sinha ◽  
Animesh Maiti
Keyword(s):  
Bone Age ◽  
Ambiguous Genitalia ◽  
Tall Stature ◽  
Polycystic Ovaries ◽  
Disorder Of Sex Development ◽  
Primary Amenorrhoea ◽  
Sex Development ◽  
Genital Ambiguity ◽  
Life Threatening ◽  
History Of

A diagnosis of congenital adrenal hyperplasia (CAH) in a ‘46, XX’ newborn with ambiguous genitalia is like a ‘knee jerk reaction’ of the paediatrician because of its higher frequency and life-threatening consequences if remain undiagnosed and hence untreated. Aromatase deficiency (AD), a rare cause of ‘46, XX’ disorder of sex development, mimics virilising CAH in many aspects; thus, the disease is often overlooked. Diagnosis of AD in women is much easier around puberty due to the presence of primary amenorrhoea, undeveloped breasts, androgen excess and tall stature with eunuchoid proportions. Diagnosing AD with confidence immediately after birth or during early childhood is a challenging task without genetic analysis. In resource-restricted settings, AD remains a diagnosis of exclusion particularly in this age group and history of maternal virilisation, non-progressive genital ambiguity, elevated gonadotrophins (follicle-stimulating hormone >>luteinising hormone), mildly delayed bone age with/without enlarged polycystic ovaries serve as important clues to the underlying AD.

scholarly journals Rare variant of ovotesticular disorder of sex development diagnosed due to injury-induced rupture of the reproductive gland in a patient with SRY-negative 46,ХХ karyotype (clinical case)

2021 ◽  
Vol 21 (4) ◽  
pp. 98-102
Author(s):  
A. B. Okulov ◽  
E. A. Volodko ◽  
O. Yu. Latyshev ◽  
D. N. Godlevsky ◽  
E. V. Timokhovich ◽  
...  
Keyword(s):  
Rare Variant ◽  
Clinical Case ◽  
Disorders Of Sex Development ◽  
Emergency Operation ◽  
Ambiguous Genitalia ◽  
Traumatic Rupture ◽  
Disorder Of Sex Development ◽  
Sex Development ◽  
Derivatives Of ◽  
Reproductive Gland

The clinical case of a rare variant of disorder of sex development (DSD) is described. This disorder was diagnosed with an emergency operation for the traumatic rupture of the gonad. A patient (14 years old) with a male phenotype and lack of muller duct derivatives had a female SRY negative karyotype (46,XX) and an ovotesticular gonad structure as a result of duplication in the regulatory zone of the SOX9 gene. Ovotesticular disorders of sex development with karyotype 46,XX, as a rule, are accompanied by an ambiguous genitalia and derivatives of the muller structures. Early diagnosis of the described variant of DSD was difficult due to the development of male type genitalia. Timely identification of DSD including the presented option of DSD, is possible during routine examinations of the urologist with mandatory ultrasound examination of the scrotum and pelvis.

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