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Myoid gonadal stromal tumor of the testis—the novel subtype of testicular gonadal stromal tumors: a case report and review of the literature
BackgroundSex cord gonadal stromal tumors compose less than 10% of all testicular neoplasms and consist of a variety of histological subtypes. In...
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CRISPR/Cas9-mediated activation of NR5A1 steers female human embryonic stem cell-derived bipotential gonadal-like cells towards a steroidogenic cell fate
The nuclear receptor subfamily 5 group A member 1 ( NR5A1 ), encoding steroidogenic factor 1 (SF-1), has been identified as a critical factor in...
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SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis
PurposeDisorders/differences of sex development (DSD) result from variants in many different human genes but, frequently, have no detectable...
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New observations on minifascicular neuropathy with sex-dependent gonadal dysgenesis: a case series with nerve ultrasound assessment
BackgroundGonadal dysgenesis with minifascicular neuropathy (GDMN) is a rare autosomal recessive condition associated with biallelic DHH pathogenic...
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X chromosome agents of sexual differentiation
Understanding sex differences in physiology and disease requires the identification of the molecular agents that cause phenotypic sex differences....
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Low energy availability reduces bone mass and gonadal function in male mice
IntroductionIn women, the female athlete triad, marked by low energy availability, functional hypothalamic amenorrhea and osteoporosis, is a...
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Laparoscopy versus ultrasonography for the evaluation of Müllerian duct remnants in male patients with disorder of sex differentiation
BackgroundThe diagnosis of male differences of sex development is a challenging multidisciplinary team task, that requires external genital...
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Total osteocalcin levels are independently associated with worse testicular function and a higher degree of hypothalamic–pituitary–gonadal axis activation in Klinefelter syndrome
PurposeThe role of osteocalcin (OCN) in pubertal development, male hypogonadism, and the effect of testosterone (Te) replacement therapy (TRT)...
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Irisin: circulating levels in serum and its relation to gonadal axis
Irisin is an exercise-induced myokine/adipokine in mice and humans that plays an important role in ‘browning’ of white adipose tissue and has shown...
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Gonadal Hormone Influences on Sex Differences in Binge Eating Across Development
Purpose of ReviewBinge eating is a transdiagnostic symptom that disproportionately affects females. Sexually dimorphic gonadal hormones (e.g.,...
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Chance diagnosis of mixed gonadal dysgenesis in an adult case of malignant gonadal germ cell tumor: a case report
BackgroundMixed gonadal dysgenesis (MGD) is a subtype of the disorders of sex development (DSD) associated with sex chromosome abnormalities...
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Myoid gonadal tumor. Case series, systematic review, and Bayesian analysis
Myoid gonadal stromal tumor represents a rare testicular neoplasm displaying smooth muscular and gonadal stromal differentiation. This entity has...
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Growth differentiation factor 15 (GDF-15) in endocrinology
Human growth differentiation factor 15 (GDF-15) is a widely distributed protein that has shown to play multiple roles in both physiological and...
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Increased testicular insulin-like growth factor 1 is associated with gonadal activation by recombinant growth hormone in immature rats
BackgroundIn children, recombinant human growth hormone (rhGH) therapy for treatment of short stature has raised concerns of the early onset of...
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Indications for fertility preservation not included in the 2017 Japan Society of Clinical Oncology Guideline for Fertility Preservation in Pediatric, Adolescent, and Young Adult Patients treated with gonadal toxicity, including benign diseases
In recent years, local governments in Japan have established a public financial support system for fertility preservation in pediatric, adolescent,...
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WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review
BackgroundIntronic WT1 mutations are usually causative of Frasier syndrome with focal segmental glomerulosclerosis as the characteristic...
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Clinical and Reproductive Characteristics of Patients with Mixed Gonadal Dysgenesis (45,X/46, XY)
IntroductionMixed gonadal dysgenesis (MGD) or 45,X/46,XY mosaicism is a sex chromosomal disorder of sexual development. We aim to characterize the...
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Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility
PurposeTo identify the contribution of mutations in the Desert Hedgehog ( DHH ) gene to the disorders of sexual differentiation (DSD) and male...
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Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report
BackgroundPermanent progression of paternal age and development of reproductive medicine lead to increase in number of children conceived with...
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Germ cell tumors with neuroglial differentiation do not show molecular features akin to their central nervous system counterpart: experience from extra-gynecological sites
Teratomas with secondary somatic malignancy showing neuroglial differentiation (central nervous system (CNS)-type tumors) arising from a glial or...
