[Mixed gonadal dysgenesis associated with an isodicentric Y chromosome]. / Izodicentrikus Y-kromoszómához társuló kevert gonáddiszgenezis.

Authors report a case of mixed gonadal dysgenesis with a karyotype containing an isodicentric Y chromosome in mosaic form, which was diagnosed in an infant. They emphasize the necessity of the special investigations of newborn with perineoscrotal hypospadia and bilateral or unilateral maldescent testes immediately after birth. The result of accurate evaluation provides correct sex assignment and the prevention of the neoplastic degeneration of a dysgenetic gonad.

Laparoscopic approach to müllerian derivatives in a male with mixed gonadal dysgenesis.

Müllerian derivatives are a frequent finding in patients with external genital ambiguity. In cases in which their removal is indicated, traditional surgical approaches are both invasive and associated with risks. We report a case of mixed gonadal dysgenesis in which a large prostatic utricle was successfully removed via laparoscopy.

A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.

The sex-determining region of the Y chromosome, the SRY gene, located on the short arm of the Y chromosome, is appreciated as one of the genes that is responsible for directing the process of sex differentiation. To date, 34 different mutations, including 29 missense and nonsense mutations in the SRY gene, have been described in XY female patients. We investigated the molecular basis of the sex reversal in one Japanese XY female patient by determining the nucleotide sequence of the SRY gene, using polymerase chain reaction and direct sequencing. We identified a novel mutation, of the substitution of Tyr for Asn at nucleotide position 87 (N87Y). This Asn residue is located within the DNA-binding high-mobility-group (HMG) motif, which is considered to be the main functional domain of the SRY protein. Further, this amino acid, Asn, is a conserved residue among mammalian SRY genes. These findings indicate that this amino acid substitution may be responsible for the sex reversal in this patient.

[Possibilities of ultrasonography in the diagnosis of sex differentiation disorders in children]. / Vozmozhnosti ékhografii v diagnostike narushenii formirovaniia pola u detei.

Ninety-five children with different forms of hermaphroditism aged 3 months to 14 years were examined to assess the potentialities of echography. Ultrasonic examinations of the kidneys, adrenals, pelvic organs (with full bladder, during and after miction), scrotum, and inguinal area were carried out. Echographic picture of urogenital organs in mixed ovarian dysgenesis, congenital deficiency of testosterone biosynthesis or metabolism due to enzymatic deficit, testicular feminization, congenital adrenocortical dysfunction was analyzed and criteria of differential diagnosis of these conditions discussed. The informative value of the method was assessed. Ultrasonic findings were compared with the data other diagnostic methods and reliability and high sensitivity of ultrasonography was demonstrated.

Mixed gonadal dysgenesis associated with unilateral cavernosal fibrosis and presenting as a cystic lower abdominal mass.

We report the first case of a patient suffering from mixed gonadal dysgenesis and fibrosis of the left cavernous body. The patient who complained about erectile dysfunction had received a penile prosthesis and was diagnosed 3 years after surgery when internal rudimentary gonads presented as a lower abdominal mass.

Surgical management of neonates and children with ambiguous genitalia.

Gender assignment is a neonatal surgical emergency. Early evaluation and treatment of intersexuality must be done as a team approach with a genetist, a paediatric endocrinologist and a paediatric surgeon/urologist taking part in it. Change of gender after 2 years of confusion of gender identity often results in social disaster. Over a period of 20 years the authors managed a total of 27 patients with ambiguous genitalia. They favour early reconstruction of most anomalies at about 3 years of age, which seems to be optimal in terms of surgical feasibility and avoidance of the obvious emotional problems caused by delayed intervention. A detailed description of policy and techniques is given for surgical intervention in the patient to be raised as a female or as a male. They changed the gender in three patients, twice in neonates and once before two years of age.