Pure gonadal dysgenesis misdiagnosed as Mayer Rokitansky Kuster Hauser Syndrome: a case report

Gonadal dysgenesis is a group of heterogeneous disorders with very rare presentation. The spectrum of disease not only includes primary amenorrhoea but also secondary amenorrhoea. Herein, we are reporting a case of 16-year-old phenotypic female who presented with amenorrhoea with 46, XX karyotype with hypoplastic uterus with absent ovaries (on imaging), with high gonadotropins level and low estradiol. Suspecting Mayer–Rokitansky–Küster–Hauser syndrome (due to hypoplastic uterus) with gonadal dysgenesis she was started on cyclic hormones for development of secondary sexual characters and to prevent bone loss. But, during follow up, after giving estrogen for 8 months, her hypoplastic uterus again starts reappearing with attainment of cyclic menses on estrogen and progesterone withdrawal. We concluded that, in the presence of rudimentary or hypoplastic uterus, straightforward diagnosis of MRKH is to be avoided without seeing peripheral estrogenisation, hormone profile and karyotype analysis.

46, XY complete gonadal dysgenesis with pubertal virilisation due to dysgerminoma/gonadoblastoma

Complete gonadal dysgenesis (CGD) or Swyer syndrome is characterised by sexual infantilism in a phenotypic female with 46, XY karyotype. Patients with gonadal dysgenesis and Y-chromosome material are at a high risk of developing gonadoblastoma and dysgerminoma. A 16-year-old girl presented with progressive virilisation, poor breast development and primary amenorrhea. On evaluation, she was found to have male-range serum testosterone, large abdominopelvic mass lesion, elevated germ cell tumour markers and 46, XY karyotype. She underwent surgical excision of left gonadal mass and right streak gonad, histopathology of which revealed dysgerminoma and gonadoblastoma, respectively. A diagnosis of virilising germ cell tumour arising in the setting of 46, XY CGD was, therefore, made. This case highlights a rare presentation of 46, XY CGD and the need to consider early prophylactic gonadectomy in patients affected with this rare condition. The presence of dysgerminoma/gonadoblastoma should be suspected if a hitherto phenotypic female with CGD undergoes virilisation.

Complete androgenin sensitivity syndrome presenting with primary amenorrhoea and inguinal mass: a case report

Androgen insensitivity syndrome (AIS), also known as testicular feminization, an X-linked recessive disorder comprises a wide range of phenotypes that are caused by various types of mutations in the androgen receptor gene. AIs can be classified as complete, partial, or mild based on the phenotypic presentation. The clinical findings include a female type of external genitalia, 46-XY karyotype, absence of Mullerian structures, presence of Wolffian structures to various degree, and normal to high testosterone and gonadotropin levels. We report this case as an interesting and rare syndrome. The patient is a 15-year-old phenotypic female who presented with primary amenorrhea and normal-appearing external genitalia. Orchidectomy was done after proper counselling and proper psychological support was given to her.

LEYDIG CELL HYPOPLASIA: A UNIQUE PARADOX IN THE DIAGNOSIS OF 46,XY DISORDERS OF SEX DEVELOPMENT

Objective: Disorders of sex development (DSD) are defined as conditions in which chromosomal sex is inconsistent with phenotypic sex, or in which the phenotype is not classifiable as either male or female. Mutations in genes present in X, Y or autosomal chromosomes can cause abnormalities of testis determination or 46,XY DSD. Leydig cell hypoplasia (LCH), also known as Leydig cell agenesis, is a rare autosomal recessive endocrine syndrome of 46,XY DSD. Our objective here is to present the case of a 27-year-old, phenotypic female who presented with primary amenorrhea and later found to have LCH. Methods: We used formatted history and clinical examination followed by necessary hormonal investigations. The diagnosis was confirmed by histopathology of resected testes and genetic mutation analysis. Results: The patient's physical examination was unremarkable except 2 ovoid lumps present in the inguinovulvar region. There were no müllerian structures on sonography. Estrogen and both basal and stimulated testosterone levels were low whereas luteinizing hormone and follicle-stimulating hormone were high. Her chromosomal sex was found to be 46,XY. The histopathology of the resected inguinal lumps showed atrophic testicular change lacking Leydig cells with relative preservation of Sertoli cells. Genetic mutation analysis failed to reveal any significant aberration in the LHCGR gene. At present she is on estrogen replacement therapy having undergone bilateral orchidectomy and vaginoplasty. Conclusion: LCH represents a unique example of diagnostic dilemma in gender identification. It requires a multidisciplinary approach for optimum outcome.

SUN-038 Social and Psychological Aspects of Partial Androgen Insensitivity Syndrome, Therapeutic Challenges

Background: Partial Androgen Insensitivity Syndrome (PAIS) is a rare congenital condition with incongruence of chromosomal, gonadal and phenotypic sex and classified as differences of sex development. Distinct from complete Androgen Insensitivity by the presence of ambiguous genitals in a 46, XY individual with normal testis development and partial responsiveness to androgens. Clinical Case: 18 years phenotypic female presented with primary amenorrhea and ambiguous genitalia with poor secondary sexual characteristics after puberty. Born out of a consanguineous marriage, normal vaginal delivery conducted by midwife at home in a small village, who informed a female with ambiguous genital though. Since childhood she uses to dress up in female attire. She has 5 siblings, two brothers and three sisters, one year back she got engaged to her distant cousin and was about to get married when one of her younger sister now 8 years having similar problem alarmed family to report before the wedlock.Vitals:Weight 55kg,Height 167cm,Physical, biochemical, chromosomal testing and imaging revealed:micropenis 3cm(N=8cm) with hypospadias, a small blind vaginal orifice, hormones within normal male ranges, Karyotype: XY, MRI revealed no female internal organs or prostate gland, left testis seen in partly formed scrotal sac (4.6x2.5cm) right in superficial inguinal region (2.7x1.9cm),normal testes size(4x3cm), bilateral cavernous tissue,respectively. Findings suggested phenotypic female with PAIS. Further investigations could not be carried out due to poor affordability and non-availability of Genetic testing facility. Management: Male gender was preferred (after discussion with urologist and consent of the patient and the family) Assigning the gender, health-related quality of life (QoL), social and psychological well-being, and affective disorders, like fertility and sexual functions in PAIS were discussed. Psychometric data was obtained through psychological questionnaires: Beck Depression Inventory & Hospital Anxiety and Depression Scale revealed moderate depression. An important pre-decision analysis regarding the potential impact of clinical decisions such as the type and timing of genital surgeries on patient’s life is missing due to absence of a multidisciplinary team for counseling and decision making. Conclusion: After spending 18.yrs as a phenotypic female the patient and her family experienced considerable emotional distress. In our culture and society these types of cases are seldom reported. We as medical professionals need to be sensitive to the social and psychological wellbeing of patients so that they can be settled and acceptable in their part of the world.