Cases Of Pure Gonadal Dysgenesis Research Articles

Successful triplet pregnancy in an African with pure gonadal dysgenesis: A plus for assisted reproduction

Abstract Gonadal dysgenesis represents a congenital developmental disorder of the reproductive system, with its main gynaecologic manifestations being amenorrhea and infertility. We present a unique case of pure gonadal dysgenesis in an ‘about to be’ married lady resident in a society where high premium and success in marriage is dependent on childbirth. With astute evaluation and counseling, assisted reproductive technology (ART) was safely and successfully used in this case with eventual triplet pregnancy and delivery. Our index experience shows that situations with compromised fertility the availability and access to ART aids effective treatment planning and births a re-invigorated hope for family life.

Gender assignment and hormonal treatment for disorders of sexual differentiation

To study the gender assignment and hormonal treatment advocated for disorders of sexual differentiation (DSD). A study was done on patients who were reviewed in the Pediatric Intersex Clinic to evaluate the pattern of gender assignment and hormonal treatment advocated. The patients included male pseudohermaphrodite (MPH) 169; congenital adrenal hyperplasia (CAH) 91; mixed gonadal dysgenesis (MGD) 29; true hermaphrodite (TH) 25; pure gonadal dysgenesis (PGD) 2; persistent mullerian duct syndrome (PMDS) 2 and others (micropenis, severe hypospadias with cryptorchidism, 46XX male) 39. Out of 91 cases of CAH, 70 (76.9%) were on steroids (prednisolone, hydrocortisone) and/or mineralocorticoids (fluoricortisone) for adrenal suppression. Out of 146 cases of male pseudohermaphrodite and 21 cases of true hermaphrodite and 3 cases of mixed gonadal dysgenesis reared as males, testosterone was given for local application for phallic growth in 101 and/or as systemic injection for mental makeup after puberty in 41 cases. Systemic testosterone injection was also given for 7 cases of CAH reared as males. Out of 26, 15 cases with mixed gonadal dysgenesis and one out of 2 cases of pure gonadal dysgenesis that attained puberty after being reared as females, after female genitoplasty, were given conjugated oestrogen (Premarin) supplemented with progesterone, as the uterus was preserved. For 12 post-pubertal cases of complete androgen insensitivity syndrome (AIS), only premarin was given as there was no uterus. Growth hormone and Gn RH analogue was given in 2 patients with CAH to tide over the early bone maturation induced by hormones with equivocal results. Thus judicious hormonal supplementation based upon type of DSD and gender assigned can provide a psychological and cosmetic benefit to patients with DSD.

Height of females with pure gonadal dysgenesis and normal male or female karyotype.

Cytogenetic studies and clinical investigations were performed in 44 cases of pure gonadal dysgenesis. The mean height of the females with the 46,XY karyotype was 6.6 cm higher than that of the females with the 46,XX karyotype. The greater difference found between normal males and females from the general population could therefore be related mainly to the hormonal influence of the testes during pre- and postnatal life.

Pure gonadal dysgenesis: Studies of in vitro androgen metabolism

In the syndrome of pure gonadal dysgenesis, clitoromegaly is frequently present even when there are no other manifestations of androgen excess. A few cases have been reported with marked virilism, and the source of the androgen excess has been shown to be the streak gonads. Although the streak gonads contain several cell types, the lutein-Leydig cells have been theorized to be a source of testosterone synthesis. We report a case of pure gonadal dysgenesis with clitoromegaly in which pure nests of the lutein-Leydig cells were obtained from a gonadoblastoma and in which the conversion of 14C-androstenedione to 14C-testosterone by these cells was compared with that in an area of the gonad that contained no lutein-Leydig cells (germinoma). The data suggest that the lutein-Leydig cells contain 17-hydroxysteroid oxidoreductase and thus are capable of converting androstenedione to testosterone. The lutein-Leydig cells demonstrated a tenfold greater conversion of 14C-androstenedione to 14C-testosterone than the area that contained no lutein-Leydig cells. Thus, the lutein-Leydig cells are a potential source of gonadal testosterone in this patient.

Cytogenetic, clinical and genealogical analyses in a series of gonadal dysgenesis patients and their families.

46 individuals, ascertained due to gonadal dysgenesis symptoms, were studied. 16 of them were 45, X and showed characteristics of Turner's syndrome. 15 proved to be chromosome mosaics and presented Turner's syndrome (12 cases), mixed gonadal dysgenesis (2) and gonadoblastoma (1). There were also 2 cases of pure gonadal dysgenesis and 13 patients with normal karyotypes. The clinical and genealogical data obtained from these individuals and their families were compared with 26 other series reported in the literature. Common malformations besides those related to sexual development are: short stature, abnormal nails, low implantation of hair, pigmented naevi, shield chest, short neck and cubitus valgus. Persons with 45,X karyotypes generally presented a more severe clinical picture than mosaics. The prevalence of twins is higher than expected among the patients' sibs in the cases reported here and in 3 of the 5 other series for which data are available.

Clinical, histological and cytogenic observations in pure gonadal dysgenesis.

ABSTRACT Clinical observations, gonadal histology and cytogenic studies are described in eight cases of pure gonadal dysgenesis. The general appearance of the patients was feminine. They had never menstruated spontaneously. Most cases showed eunuchoidal body proportions and absence of breast development. The external genitalia were infantile. All patients had the streak gonads which consisted of undifferentiated embryonic stroma without any germinal elements. The gonadotrophin level was normal or high. In four cases, apparently normal male karyotype and in three cases apparently normal female karyotype was found. In one case chromosomal mosaic XO/XX was encountered. No clinical or histological differences between patients with male and female karyotype were found, except for phallic enlargement which was present in three out of four cases with male chromosome complement.

PURE GONADAL DYSGENESIS; REPORT OF A CASE.

SEX REVERSAL, defined by a female phenotype and a male chromosome complement, is seen in testicular feminization and in a rare variety of gonadal dysgenesis, namely gonadal dysgenesis. The present report describes a girl, aged 17, whom we consider to be a case of pure gonadal dysgenesis. Report of a Case The patient was born from healthy nonrelated parents. Her father was 37 and her mother was 30 at the time of the patient's birth. She has a healthy brother, aged 27. The family history is unremarkable. The pregnancy was uneventful and the mother received no treatment and no x-ray therapy. The patient first sought medical advice at the age of 14 because of delayed puberty. She then received, during the next three years, three series of chorionic gonadotropin injections. At present, at the age of 17, she measures 156 cm (6 ft 1 inch) and weighs 53 kg