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Rossella Cannarella, Teresa Mattina, Rosita A Condorelli, Laura M Mongioì, Giuseppe Pandini, Sandro La Vignera, and Aldo E Calogero

/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

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E Kohva, P J Miettinen, S Taskinen, M Hero, A Tarkkanen, and T Raivio

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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Sakina Kherra, Wendy Forsyth Paterson, Filiz Mine Cizmecioglu, Jeremy Huw Jones, Mariam Kourime, Heba Hassan Elsedfy, Sameh Tawfik, Andreas Kyriakou, Mohamad Guftar Shaikh, and Malcolm David Cairns Donaldson

). 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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Yardena Tenenbaum-Rakover, Osnat Admoni, Ghadir Elias-Assad, Shira London, Marie Noufi-Barhoum, Hanna Ludar, Tal Almagor, Yoav Zehavi, Charles Sultan, Rita Bertalan, Anu Bashamboo, and Kenneth McElreavey

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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Ja Hye Kim, Yunha Choi, Soojin Hwang, Ji-Hee Yoon, Jieun Lee, Min Jae Kang, Gu-Hwan Kim, Han-Wook Yoo, and Jin-Ho Choi

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

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Isabelle Flechtner, Magali Viaud, Dulanjalee Kariyawasam, Marie Perrissin-Fabert, Maud Bidet, Anne Bachelot, Philippe Touraine, Philippe Labrune, Pascale de Lonlay, and Michel Polak

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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Sneha Arya, Sandeep Kumar, Anurag R Lila, Vijaya Sarathi, Saba Samad Memon, Rohit Barnabas, Hemangini Thakkar, Virendra A Patil, Nalini S Shah, and Tushar R Bandgar

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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Ja Hye Kim, Yunha Choi, Soojin Hwang, Gu-Hwan Kim, Han-Wook Yoo, and Jin-Ho Choi

). 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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Avinaash Maharaj, Ruth Kwong, Jack Williams, Christopher Smith, Helen Storr, Ruth Krone, Debora Braslavsky, Maria Clemente, Nanik Ram, Indraneel Banerjee, Semra Çetinkaya, Federica Buonocore, Tülay Güran, John C Achermann, Louise Metherell, and Rathi Prasad

/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

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André Marques-Pinto and Davide Carvalho

testicular dysgenesis syndrome There is an epidemiological correspondence between lower semen quality and higher incidences of cryptorchidism, hypospadias and testicular cancer (116) . These disorders have been regrouped as the testicular dysgenesis syndrome