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Biomedical subjects

A C Ammini

Publications and source records attributed to A C Ammini.

At least 37 records · Page 2Linked to original sources
PubMed1997

Morphogenesis of the human external male genitalia.

The morphogenesis of the external genitalia of human fetuses (16-250 mm crown-rump [CR] length, 6-26 weeks of gestation) obtained after medical termination of pregnancy were studied. Differential development (male/female) started after 50 mm CR length (9 weeks). At that time the external genitalia consisted of a cylindrical genital tubercle 2 mm in length with a visible coronary sulcus and glans and genital swellings on either side. A groove on the ventral aspect of the genital tubercle extended to the coronary sulcus; the lateral boundaries of this groove separated to form the urethral folds. In male fetuses the free edges of the urethral folds fused, starting from the proximal end, to form a tunnel over the ventral aspect of the phallus. The pelvic urethra opened into this tunnel, slightly distal to its origin. The mesodermal tissue forming the genital swellings migrated ventrally and then medially. As medial migration started, the skin in the midline between the genital swellings was raised up as a skin fold, which subsequently, as the genital swellings migrated further, became elevated. The proximal part of the tunnel formed by fusion of the urethral folds (proximal to the point of entry of the pelvic urethra) also was compressed and pushed out as the genital swellings fused in the midline over the root of the phallus. These changes took place at between 80 and 110 mm CR length (12-13 weeks' gestation); at this stage the phallus appeared short and was bent ventrally. With further growth and caudal migration of the scrotum, the phallus lost its ventral curvature. The appearance of the external genitalia at different gestational ages bore a close resemblance to that in children with hypospadias. We therefore conclude that hypospadias can be explained on the basis of an embryological arrest due to the absence of the required stimulus for male phenotypic development at the appropriate time.

Crown-Rump Length↗
PubMed1997

Late onset adrenal hyperplasia due to 3 beta-hydroxy-delta 5-steroid dehydrogenase deficiency in north Indian hirsute women.

The presence of late onset 3 beta-hydroxy steroid dehydrogenase (3 beta-HSD) type of congenital adrenal hyperplasia was studied in 58 north Indian hirsute women. The age range of these patients was 15 to 42 yr. Fifty two per cent of these patients had body mass index > 25. Basal serum testosterone, luteinizing hormone, follicle stimulating hormone, dehydroepiandrosterone sulphate (DHEAS), and 17 hydroxy progesterone (17 OHP) were estimated. All the patients underwent adrenocorticotropin (ACTH) stimulation test after an overnight dexamethasone suppression for the estimation of DHEAS, 17 OHP, and 17 hydroxy pregnenolone (delta 5-17p). Five (8.6%) hirsute women showed an exaggerated 17 OHP response to ACTH indicating 21-hydroxylase deficiency. Eight (13.8%) hirsute women had elevated basal DHEAS and ACTH-stimulated DHEAS as well as delta 5-17P responses indicative of 3 beta-HSD deficiency. In one patient hirsutism was the presenting manifestation of tumoural hyperandrogenism. Our findings indicate the presence of both 21-hydroxylase and 3 beta-HSD deficiency in north Indian hirsute women, with, 3 beta-HSD deficiency being the major cause of hirsutism in this population.

Adolescent↗
PubMed1996

Precocious puberty with pituitary gland hyperplasia: two cases in one family.

Children with central precocious puberty have pituitary gland size comparable to that of pubertal children (pituitary gland height 6.1 +/- 1.1 mm). We present of two sisters with precocious puberty and a pituitary gland height of more than 1 cm. On contrast enhanced MRI, there was homogeneous enhancement of the pituitary gland. There was no increase in pituitary gland size during the follow-up period (6 years and 2 years). These cases are reported for their rarity.

Child↗
PubMed1996

Computed tomography morphology of the adrenal glands of patients with Addison's disease.

To study the morphology of the adrenal glands of patients with Addison's disease an ultrasound and a computed tomographic scan of the adrenal glands were performed in 28 patients with Addison's disease. Thirteen patients had bilateral, asymmetric adrenal enlargement. In six of these patients, areas of necrosis and calcification were also seen. Six patients had atrophic glands with calcification and nine patients had normal/atrophic glands without calcification. After instituting appropriate treatment, computed tomography (CT) was repeated between 6 months and 3 years later in 10 of the 13 patients with adrenal enlargement. A reduction in gland size was noted in all patients and one had functional recovery. We conclude that the appearance of the adrenal glands on CT depends not only on the nature of the underlying disease but also on the duration of the illness and the type of treatment.

Addison Disease↗
PubMed1996

Clinical and DNA studies on 46, XY females with gonadal dysgenesis. A report of six cases.

BACKGROUND: Understanding the process of sex determination has been aided by the molecular analysis of individuals whose karyotype does not correspond to their phenotype, 46, XX males and 46, XY females. CASES: We studied the clinical and molecular data on six 46, XY females of Indian ethnic origin. In each subject, cytogenetic analysis indicated a 46, XY karyotype without mosaicism. In four of the cases DNA studies were performed on the sex-determining region, Y chromosome gene. A de novo point mutation was identified in one subject. CONCLUSION: Our data provide additional evidence for genetic heterogeneity in the etiology of 46, XY gonadal dysgenesis.

Adolescent↗
PubMed1995

Unexplained absence of both fallopian tubes with ovary in the omentum.

A rare case of unexplained absence of both fallopian tubes and ovaries from their normal position, resulting infertility is presented. On careful search an ectopic ovary containing dermoid cyst was found in the omentum. Possible mechanism and clinical significance of such a rare occurrence is discussed.

Adult↗
PubMed1994

Maternal and perinatal outcome in thyrotoxicosis complicating pregnancy.

In this report we describe 32 pregnancies complicated by hyperthyroidism cared for over a 7-year period at AIIMS, New Delhi. In 6 cases hyperthyroidism was diagnosed during pregnancy; others were diagnosed before conception and were on antithyroid therapy during pregnancy. For control of thyrotoxicosis thiourea derivatives, carbimazole (CMZ) and propylthiouracil (PTU), were both used. The dosage of antithyroid drugs could be decreased or stopped in the third trimester in only 28% cases, while 50% cases did not require any change in the dosage during gestation and 21% required an increase in dosage with advancing gestation to control thyrotoxicosis. Maternal and fetal complications included preterm labour (25%), PIH (22%), thyroid crisis (9%) and intrauterine growth retardation (13%). Thyroid status of neonates was found abnormal in 9% cases, including 1 case (3%) of neonatal thyrotoxicosis with goitre and 2 (6%) cases of neonatal hypothyroidism. One maternal death occurred due to thyroid storm. No case of stillbirth or perinatal death occurred in the present study. In our experience of 32 cases maternal and fetal complications are reported with increased frequency, requiring close surveillance of thyroid status to maintain euthyroidism and intensive fetal monitoring during pregnancy to achieve good maternal and perinatal outcome.

Adult↗
PubMed1994

Cushing's disease: pituitary imaging.

Fourteen patients with adrenocorticotropic hormone (ACTH)-dependent hypercortisolism underwent pituitary scanning with computed axial tomography (CT) and magnetic resonance imaging (MRI). Computed tomography revealed pituitary macroadenomas in two patients, pituitary hyperplasia in one and a suspicion of pituitary microadenoma in one. Thirteen patients underwent MRI. One with a macroadenoma diagnosed on CT did not undergo MRI. The MRI revealed a pituitary macroadenoma in one, microadenoma in three and hyperplasia in two cases. Magnetic resonance imaging following gadolinium diethylene triamine penta acetic acid (gd-DTPA) enhancement revealed four more pituitary microadenomas. All patients who had pituitary adenomas (micro and macro) and hyperplasia underwent trans-sphenoidal pituitary surgery. One of the two patients, who had an enlarged pituitary on imaging but no demonstrable adenoma, was found to have a microadenoma at surgery. Patients with ACTH-dependent hypercortisolism should undergo MRI of the pituitary gland to identify/localize corticotroph pituitary adenomas. The study should include gd-DTPA enhancement in cases where the scan is normal.

Adenoma↗
PubMed1994

Human female phenotypic development: role of fetal ovaries.

Morphogenesis of external genitalia was studied in human fetuses obtained from cases of medical termination of pregnancies and cases of spontaneous abortions. Eighty-two fetuses, 16 mm crown rump (CR) length (6 weeks gestation) to 240 mm CR length (26 weeks gestation), were studied. Fetal sex was determined with the help of chorionic villus of fetal skin biopsies in cases of fetuses less than 70 mm CR length. Growth and differentiation up to 50 mm CR length (9 weeks gestation) was identical for both sexes. After this there was rapid growth and differentiation in males. But in females subsequent growth until 180-200 mm CR-length stage (20 weeks gestation), was restricted to growth of labia majora. After this there was rapid ventral outgrowth of the region of perineum between the clitoris and anus, which brought the urethral and vaginal orifices to the surface. There was also further growth of labia. This process of feminization of external genitalia was completed by the 26th week of gestation. Histology revealed that ovary and testes could be clearly identified at 60 mm CR length stage. Maturation of fetal testes progressed rapidly, but there was little change in the histological appearance of ovaries until 160-180 mm CR-length stage (18-20 weeks of gestation). Follicular growth started after this. Feminization of urogenital sinus started after follicular growth started in the fetal ovaries. So from the temporal profile of events, it appears that it may be initiated by fetal ovarian steroids.

Abortion, Induced↗
PubMed1994

Genetic heterogeneity in true hermaphrodites. A report of two cases.

True hermaphrodites are identified from the presence of ambiguous genitalia with both ovarian and testicular tissue. Two cases presented below had a 46,XX chromosome pattern, cryptorchidism and undescended testes. Both cases showed an absence of secondary sexual characteristics and presence of bilateral breasts and a uterus. The gonads in case 1 were an ovotestis and testis (left side) and in case 2 were an ovary and testis (right side). Case 1 was analyzed for a sex-determining region on the Y chromosome (SRY) and was negative. Phenotypic, gonadal and molecular studies suggest that 46,XX true hermaphroditism is a genetically heterogeneous condition.

Adolescent↗
PubMed1993

Magnetic resonance imaging of the brain in idiopathic hypogonadotropic hypogonadism.

Magnetic resonance imaging (MRI) of the pituitary, hypothalamus and olfactory sulci was performed in 40 patients with idiopathic hypogonadotropic hypogonadism (IHH). Twelve of these patients had an impaired sense of smell (Kallmann's syndrome). Sagittal and coronal imaging revealed no morphological abnormalities in the hypothalamic-pituitary region. On axial imaging rudimentary, hypoplastic or aplastic olfactory sulci were found in eight cases. All patients with olfactory sulcal abnormalities had associated hyposmia (one case) or anosmia (seven cases). Structural defects identifiable on MRI were present only in 20 per cent of patients with IHH.

Adult↗
PubMed1993

Cushing syndrome complicating pregnancy.

A case of Cushing syndrome in a 25-year-old female diagnosed during pregnancy is presented. The pregnancy was complicated by diabetes mellitus, pregnancy induced hypertension, prematurity and intrauterine growth retardation. The patient underwent transphenoidal pituitary adenectomy after delivery for removal of a large pituitary adenoma. The mother and infant are well 10 months after delivery.

Adenoma↗
PubMed1992

A transsexual male with 47,XYY karyotype.

Transsexuals are usually found to have a normal chromosome complement. The literature to date documents four transsexuals with 47,XYY pattern. This paper reports a fertile male with major cell line of 47,XYY and a gender identity disorder.

Adult↗