No abstract available.
Ovotesticular Disorders of Sex Development*

No abstract available.
Ovotesticular Disorders of Sex Development*

Background: Disorders of Sex Development (DSD) are conditions that arise from an abnormality of the typical structural, chromosomal and/or gonadal characteristics of sex development. The incidence of DSD is not well established in the Philippines and there is no published local data. The complex nature of DSD requires streamlined multidisciplinary team management and guidelines from the 2006 Consensus meeting have become the standard of care for patients. Objective: The study describes the phenotype, biochemical, diagnostic and management profiles of patients with Disorders of Sex Development (DSD) excluding congenital adrenal hyperplasia (CAH) at the Philippine General Hospital, a tertiary care medical facility. Methods: Medical records of patients with DSD seen at the Division of Clinical Genetics from 2012-2016 were reviewed. Histories, demographic profiles, clinical features, co-existing health conditions, laboratory, imaging results, and interventions (medical or surgical) were recorded into a clinical report form. Results: Fifty-five (55) patient charts were included of all the patients with DSD listed in the registry. The neonatal period was the most common time DSD was first noted (69.09%). Most (58.18%) were assigned the male sex. The most common genital anomalies were hypospadias (45.45%), cryptorchidism (21.82%), and micropenis (12.73%). Associated health conditions included multiple congenital anomalies (32.73%), genitourinary with or without gastrointestinal anomalies (16.36%) and dysmorphic features (12.73%). Among 28 patients with karyotypes, there were 12 patients with sex chromosome DSD; two 46, XX DSD and fourteen 46, XY DSD. Four patients were prescribed hydrocortisone, three of whom had higher levels of 17-OH progesterone beyond cut-off level (2 preterm, 1 full term) while 1 full term presented with genital ambiguity; one case of Klinefelter syndrome was given testosterone replacement. Ten patients underwent corrective surgery for urogenital anomalies. Repair of hypospadias was the most common procedure. Repairs of associated anomalies (neurologic, cardiac, gastrointestinal, genitourinary) were done in 6 patients. Conclusion Complete history, meticulous physical examination and comprehensive investigations are important for the confirmation of DSDs. Uniform classification, use of standardized terminology, and proper documentation of findings are crucial for the integrated and appropriate management of these patients.
Disorders of Sex Development

M.M., a 31-year old laborer from Valenzuela consulted for genital ambiguity. The patient was reared as female and developed female secondary sexual characteristics. The patient, however, was psychologically male. The condition was also noted in 2 siblings, 6 cousins and 2 maternal "uncles". The phenotype was that of a normal female. After clinical investigation, the patient was diagnosed as having partial androgen insensitivity syndrome. Partial androgen insensitivity is a tenth as common as the complete form, and the pedigree analysis is consistent with an X-linked trait. Phenotypes vary from individuals with normal female external genitalia through patients with genital ambiguity to those with normal male phenotype who have a small phallus and are fertile. The pathology identified is a quantitative deficiency of the androgen receptor and/or qualitative abnormal androgen receptor. Diagnosis is made by clinical examination, phenotype, with measurement of plasma testosterone and its receptors. There is no specific therapy for this condition. Sex of rearing is dependent on the age of diagnosis and degree of sexual ambiguity. Others suggest that reconstructive surgery should be delayed until the patient can be included in the decision making process.
Human ; Adult ; DISORDERS OF SEX DEVELOPMENT

Partial Gonadal Dysgenesis (PGD) is a rare disorder of sexual development defined by sexual ambiguity and the presence of mullerian structures due to variable degrees of testicular dysgenesis in individuals with a non-mosaic 46, XY karyotype. Due to incomplete gonadal development, the external phenotype would rely on the degree of testicular function. The dysgenetic gonads found in PGD have high risk for malignant transformation. Although ambiguous genitalia was noted upon birth, a case diagnosed in adulthood is presented. Discordance between sex of rearing and the psychosexuality of the patient prompted consult. On work up, 46, XY was noted on karyotyping but presence of a uterus was seen on ultrasound. Hormonal assay revealed elevated levels of FSH and LH, while testosterone levels were low and estradiol was high. Gonadoblastoma was noted on final histopathologic evaluation. This report shall tackle thorough preoperative evaluation, surgical and postoperative management of individuals with PGD.
Gonadal Dysgenesis ; Disorders of Sex Development ; Disorder of Sex Development, 46,XY

Dysgenetic male pseudohermaphroditism is a disorder of sexual differentiation in which patient with bilateral dysgenetic tests, persistent Mullerian structures, cryptorchidism and inadequate virilization. We experienced one case of dysgenetic male pseudohermaphroditism with 45,XO/46,XY mosaicism and hypothalamic dysfunction, so we reports this case with a brief review of the literatures.
46, XY Disorders of Sex Development* ; Cryptorchidism ; Disorders of Sex Development ; Humans ; Male* ; Mosaicism ; Sex Differentiation ; Virilism

No abstract available.
46, XY Disorders of Sex Development* ; Humans ; Male*

No abstract available.
46, XX Disorders of Sex Development* ; Female* ; Humans

No abstract available.
46, XY Disorders of Sex Development* ; Humans ; Male*

Ovotesticular disorder of sexual differentiation (OT-DSD) is a rare condition defined by the presence of both testicular and ovarian elements in the same individual. Definitive diagnosis is made based on histological assessment of the gonad/s confirming both ovarian and testicular components. In this paper, we describe how a diagnosis of 46XX, OT-DSD was made in a 20-year-old individual with enlarged breasts and ambiguous genitalia. The initial impression was congenital adrenal hyperplasia (CAH) based on 46, XX karyotype and absence of testes on physical examination and imaging. However, biochemical tests were inconsistent with CAH, hence a more probable diagnosis of 46, XX OT-DSD was considered. The patient suffered from gender dysphoria and after extensive counseling, he decided to undergo gender-affirming surgery: laparoscopic excision of the left gonad, subtotal hysterectomy, bilateral mastectomy, and a masculinizing genitoplasty. Histopathology of the left gonad revealed an ovotestes which confirmed the diagnosis of 46, XX OT-DSD.
Ambiguous genitalia ; disorders of sex development ; intersex ; ovotesticular