PubMed · 10444733
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J L Dhondt, J P Farriaux. 1999. Timely neonatal screening.. https://doi.org/10.1136/jms.6.2.111b
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Traditionally twins are classified as dizygous or fraternal and monozygous or identical (Hall Twinning, 362, 2003 and 735-743). We report a rare case of 46,XX/46,XY twins: Twin A presented with ambiguous genitalia and Twin B was a phenotypically normal male. These twins demonstrate a third, previously unreported mechanism for twinning. The twins underwent initial investigation with 17-hydroxyprogesterone and testosterone levels, pelvic ultrasound and diagnostic laparoscopy. Cytogenetic analysis was performed on peripheral blood cells and skin fibroblasts. Histological examination and Fluorescence in situ hybridization studies on touch imprints were performed on gonadal biopsies. DNA analysis using more than 6,000 DNA markers was performed on skin fibroblast samples from the twins and on peripheral blood samples from both parents. Twin A was determined to be a true hermaphrodite and Twin B an apparently normal male. Both twins had a 46,XX/46,XY chromosome complement in peripheral lymphocytes, skin fibroblasts, and gonadal biopsies. The proportion of XX to XY cells varied between the twins and the tissues evaluated. Most significantly the twins shared 100% of maternal alleles and approximately 50% of paternal alleles in DNA analysis of skin fibroblasts. The twins are chimeric and share a single genetic contribution from their mother but have two genetic contributions from their father thus supporting the existence of a third, previously unreported type of twinning.
CONTEXT: In male patients with congenital adrenal hyperplasia (CAH), testicular adrenal rest tumors (TART) are frequently present. These tumors can interfere with testicular function. Intensifying glucocorticoid therapy does not always lead to tumor regression and improvement of testicular function. Recently, testis-sparing surgery was introduced for treatment of TART. OBJECTIVE: The aim of this study was to evaluate tumor volume, symptoms, and pituitary-gonadal function in male patients with CAH caused by 21-hydroxylase deficiency and bilateral TART before and after testis-sparing surgery. SETTING: This study was conducted at Radboud University Nijmegen Medical Centre in The Netherlands. PATIENTS: Eight adult male CAH patients with bilateral TART and infertility were included. INTERVENTIONS: Evaluation of testicular magnetic resonance imaging, symptoms, fasting serum concentrations of ACTH, LH, FSH, inhibin B, 17-OH progesterone, androstenedione, testosterone, and estrone, and semen analysis (six of eight patients) was performed before and 6 and 22 months after testis-sparing surgery. MAIN OUTCOME MEASURES: The main outcome measures were absence of residual tumor and improvement of symptoms and pituitary-gonadal function. RESULTS: Residual tumors were not found on any of the patients' magnetic resonance imaging after surgery. Two patients reported testicular pain and discomfort that disappeared after surgery. Parameters of pituitary-gonadal function did not improve after surgery: semen analysis showed azoospermia (five patients) or oligospermia (one patient) without improvement, and all patients had persistently low inhibin B concentrations. CONCLUSION: Testis-sparing surgery did not improve pituitary-gonadal function despite successful removal of the tumors. Further studies are needed to investigate whether surgery at an earlier stage in the natural history of TART can prevent permanent testicular damage.
BACKGROUND: Idiopathic hirsutism (IH) is the second most common cause of hirsutism, after polycystic ovary syndrome and occurs in about 15% of hirsute women. There are not many studies showing whether patients with IH also have insulin resistance. In the present study, we aimed to investigate the insulin sensivity in IH with non-obese and changing hormone levels during the hyperinsulinemic-euglycemic clamp. METHODS: Twenty (20) non-obese women with IH (Group I) ranging in age from 20 to 30 (mean 25 +/- 5) years were studied. Hirsutism in women with normal testosterone (T) levels and regular menstrual cycles is as defined IH. Twenty (20) healthy women (mean age 23 +/- 2 years) (Group II) were included in this study as the control group. Insulin sensitivity was assessed with modified euglycemic insulin clamp technique. Samples of prolactin, luteinizing hormone (LH), follicle-stimulating hormone, adrenocorticotropic hormone (ACTH), dehydroepiandrosterone sulfate, cortisol, estradiol, progesterone, 17-OH progesterone (17-OHP), total T, and free T (FT) were obtained at baseline and at 2nd hour during clamp. RESULTS: Steady-state (120 min) glucose disposal rates were higher in Group II than Group I (7.51 +/- 0.83 vs. 5.76 +/- 1.89 mg/kg/min). Mean FT, ACTH, cortisol, LH, prolactin and 17-OHP levels were found to have decreased statistically significantly (p < 0.05) in Group I. Mean FT, ACTH, and prolactin levels were found to have decreased statistically significantly (p < 0.05) in Group II during the clamp. Mean baseline levels of FT, LH and prolactin were greater in women with hirsutism than in the control subjects (p < 0.05). Insulin mediated glucose disposal was lower in the normal weight women with IH than in those without hirsutism. CONCLUSIONS: Mean FT, 17-OHP and dehydroepiandrosterone sulfate levels decreased during euglcemic-hyperinsulinemic clamp in IH.