hypospadias/proline

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Androgen receptor gene mutations are rarely associated with isolated penile hypospadias.

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Prijava / prijava

OBJECTIVE Hypospadias has no known single etiology but it has been linked to androgen insensitivity caused by mutations of the androgen receptor gene. The purpose of this study was to search for such mutations in cases of various degrees of isolated hypospadias to determine whether such an

Severity-Dependent Profile of the Metabolome in Hypospadias.

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Prijava / prijava

Background & Objective: Hypospadias, characterized by the displacement of the opening of the urethra at any point in the medial-ventral side of the penis, is classified upon severity as mild (Type I) and severe (Type II and Type III) hypospadias. Hypospadias' etiology is idiopathic in the

Incisional corporoplasty for the correction of congenital penile curvature: a review of two suturing techniques.

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Prijava / prijava

This retrospective study was designed to evaluate the surgical outcome of correction of congenital penile curvature, via multiple vertical incisions in the tunica albuginea using two different types of suture material, simple inverted 2-0 PDS sutures versus Proline 2-0 suture followed by closure

In silico structural, functional and pathogenicity evaluation of a novel mutation: an overview of HSD3B2 gene mutations.

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Prijava / prijava

Mutations of 3 beta hydroxysteroid dehydrogenase type II (HSD3B2) gene result in different clinical consequences. We explain a patient who demonstrated a salt wasting form of 3βHSD deficiency in infancy. Signs of hyponatremia and hyperkalemia were recognized in the infant with ambiguous genitalia

Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.

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Prijava / prijava

BACKGROUND Renal tract malformations are, on occasion, associated with uterine malformations. The transcription factor hepatocyte nuclear factor (HNF)-1beta is expressed from the earliest stages of development of the Wolffian duct, the mesonephros and metanephros, and the Müllerian ducts in the

An N-terminal WT1 mutation (P181S) in an XY patient with ambiguous genitalia, normal testosterone production, absence of kidney disease and associated heart defect: enlarging the phenotypic spectrum of WT1 defects.

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Prijava / prijava

OBJECTIVE This study reports the clinical and molecular data of an XY patient with a very unusual phenotype due to a Wilms' tumor-suppressor (WT1) gene mutation. The genotype-phenotype relationship of different WT1 mutations is then discussed. METHODS The patient presented at birth with micropenis,

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