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/18) No 14.3% (5/35) 33.3% (7/21) 15.6% (5/32) No − No Genital/gonadal abnormalities d + 40.0% (2/5) No 45.9% (17/37) 18.2% (2/11) 54.8% (17/31) No 30% Yes Cryptorchidism + 25.0% (1/4) Not known c 57.1% (8
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland
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Department of Pediatric Surgery, Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
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Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland
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Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland
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deviations in chromosomal, gonadal or phenotypic sexual development. To examine the relation of minor anatomic deviations to actual DSDs, we accepted a wide range of diagnoses (i.e. distal hypospadias and/or unilateral cryptorchidism) in the search ( Table 1
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). Clinical features include small penis, scrotal hypoplasia and cryptorchidism at birth, with spontaneous puberty but mid-pubertal arrest and reduced testicular volume attributable to a reduction in seminiferous tubules. Basal gonadotrophins and testosterone
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, male-type external genitalia with bilateral cryptorchidism and/or micropenis and/or hypospadias, female-type external genitalia with clitoral enlargement and/or labia fusion and/or inguinal mass and/or inguinal hernia, gonadal dysplasia (GD), absent
The Rappaport Faculty of Medicine, Technion, Haifa, Israel
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The Rappaport Faculty of Medicine, Technion, Haifa, Israel
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The Azrieli Faculty of Medicine, Bar-Ilan, Safed, Israel
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karyotyping after birth revealed the 46,XY genotype in all of them. Median age at presentation was 21 days (range 7–455). All male genotype patients presented with severe atypical genitalia, including all or part of the following: cryptorchidism, hypospadias
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of whom were prepubertal children who attended our center due to anosmia, and 1 neonate treated at our center due to cryptorchidism and a micropenis. The diagnosis of IGD was based on previously described criteria ( 6 ) as follows: (i) absent or
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
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Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
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Department of Endocrinology and Reproductive Medicine, AP-HPIE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
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Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Université de Paris, Paris, France
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Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades University Hospital, IMAGINE Institute affiliate, Paris, France
Centre for Rare Gynecological Disorders, Hospital Universitaire Necker-Enfants Malades, Paediatric Endocrinology, Gynaecology and Diabetology, AP-HP, Université de Paris, Paris, France
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cryptorchidism ( 20 ). Anti-Müllerian hormone (AMH) levels were normal or elevated and inhibin B levels normal or decreased. Evidence that males with galactosemia have fathered children comes only from personal communications. Few descriptive data are available
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were included in the study. Patients presenting with isolated hypospadias (distal and mid) or isolated cryptorchidism (unilateral/bilateral) with typically male genitalia were excluded. Genetic analysis was done after obtaining the written informed
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). Endocrine dysfunctions are commonly associated with CHARGE syndrome. Approximately 60–80% of patients with CHARGE syndrome present with hypogonadotropic hypogonadism, manifesting as genital hypoplasia such as micropenis or cryptorchidism in males and delayed
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/mineralocorticoid deficiency and presence of pathology on adrenal imaging. Details of gonadal disease incorporated included clinical features (microphallus/cryptorchidism/hypospadias) or delayed puberty, biochemical findings (including gonadotrophins/sex steroids/AMH) and