( 5 ). Donor splice-site mutations (downshifting of the ratio of +KTS (lysine, threonine, and serine) to −KTS isoforms) of intron 9 are responsible for Frasier syndrome (FS, OMIM 136680), comprising of XY gonadal dysgenesis and predisposition to
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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
Zofia Kolesinska, James Acierno Jr, S Faisal Ahmed, Cheng Xu, Karina Kapczuk, Anna Skorczyk-Werner, Hanna Mikos, Aleksandra Rojek, Andreas Massouras, Maciej R Krawczynski, Nelly Pitteloud, and Marek Niedziela
Frasier syndrome ; TRS; hypospadias AD 11p13 607102 WWOX PGD AD, deletion 16q23.2 ZFPM2 CGD; PGD AD 8q23.1 603693 Disorder of androgen synthesis (DAS) AKR1C2 3α-hydroxysteroid dehydrogenase deficiency AR
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
failure and high risk for Wilms tumor, and Frasier syndrome exhibiting nephrotic syndrome with a high risk for gonadoblastoma. In our case, primary testicular failure was observed in the patient at the age of 12 years, but with no renal anomalies. Case 5
Robert Rapaport, Jan M Wit, and Martin O Savage
leads to two groups, that is, primary and secondary growth disorders ( 4 , 5 , 6 ). The majority of primary growth disorders consists of clinically defined syndromes and skeletal dysplasias caused by variants of genes associated with growth plate
Urszula Smyczyńska, Joanna Smyczyńska, Maciej Hilczer, Renata Stawerska, Ryszard Tadeusiewicz, and Andrzej Lewiński
-year response model included 59 children who entered puberty before treatment (37 boys, 22 girls), while FH model included 39 ones (24 boys, 15 girls). The exclusion criteria were chronic diseases, multiple pituitary hormone deficiency, genetic syndromes
Kennett Sprogøe, Eva Mortensen, David B Karpf, and Jonathan A Leff
supported by studies of children with GH receptor insensitivity/deficiency. Patients with Laron syndrome treated with IGF-1 demonstrated lower growth rates compared to patients with GHD treated with daily GH, supporting the contribution to growth that both
