Keith A. Hansen

Paternal somatic and germ-line mosaicism for a sex-determining region on Y (SRY) missense mutation leading to recurrent 46,XY sex reversal

OBJECTIVEnTo determine the etiology for recurrent 46,XY sex reversal in a family with two Swyer siblings.nnnDESIGNnDeoxyribonucleic acid (DNA) from peripheral lymphocytes and sperm were analyzed for duplication of the dosage sensitive sex locus (DSS) and for mutations in sex-determining region on Y (SRY).nnnSETTINGnAn academic teaching hospital.nnnPATIENTSnA family consisting of mother, father, and five phenotypic daughters, of which two were 46,XY sex-reversed females.nnnINTERVENTIONnDeoxyribonucleic acid (DNA) extraction, polymerase chain reaction (PCR), Southern blotting, dosage densitometry, single-strand conformation polymorphism (SSCP), and sequencing.nnnMAIN OUTCOME MEASUREnComparison of control and subject DNA.nnnRESULTSnDeoxyribonucleic acid (DNA) analysis of SRY in genomic DNA from the 46,XY sex-reversed siblings revealed identical missense mutations (T-->G) in both sisters. Analysis of the SRY gene in paternal lymphocyte and sperm DNA revealed mosaicism for wild and mutant (T-->G) SRY sequences. SRY analysis of sperm DNA also demonstrated the same mosaicism for the T-->G missense mutation.nnnCONCLUSIONnA postembryonic SRY mutation gave rise to paternal mosaicism for two distinct cell populations (SRY+/SRY-). The presence of a wild type SRY in the somatic cell line may account for a normal pattern of male sexual differentiation, whereas the presence of a mutated SRY in the germ line resulted in two 46,XY sex-reversed offspring. These results confirm a proposed mechanism for the condition of recurrent 46,XY sex-reversed females.

Massive ovarian enlargement in primary hypothyroidism

OBJECTIVEnTo report a case of ovarian cyst formation and myxedematous infiltration of the ovary in a subject with primary hypothyroidism.nnnDESIGNnRetrospective case report.nnnSETTINGnUniversity hospital.nnnPATIENT(S)nA 16-year-old female adolescent with pelvic pain, galactorrhea, irregular menses, and ovarian cysts on pelvic examination.nnnINTERVENTION(S)nLaparotomy with bilateral ovarian wedge resection and thyroid replacement therapy.nnnMAIN OUTCOME MEASURE(S)nOvarian histopathology, thyroid function tests, and menstrual history.nnnRESULT(S)nResolution of patients pain, galactorrhea, and resumption of normal menses.nnnCONCLUSION(S)nOvarian cyst formation may accompany primary hypothyroidism in the child with accelerated or delayed sexual maturation. To date, the underlying pathophysiology of the morphological changes in the ovary remain enigmatic. This case report provides the first insight into the actual histologic changes that occur in ovaries of subjects with primary hypothyroidism without secondary ovarian pathology such as torsion. There is clear evidence of myxedematous infiltration into the ovarian stroma without luteinization of the theca interna. These microscopic findings suggest that local changes occurring independent of gonadotropin stimulation may contribute significantly to altered morphology of the ovaries in primary hypothyroidism.

Ovulation induction in clomiphene-resistant anovulatory women with normal dehydroepiandrosterone sulfate levels: beneficial effects of the addition of dexamethasone during the follicular phase *

OBJECTIVEnTo evaluate the effect on ovulation of a 10-day course of dexamethasone (DEX) initiated concurrently with a 5-day course of clomiphene citrate (CC) in CC-resistant patients with normal DHEAS levels.nnnDESIGNnRetrospective review.nnnSETTINGSnPatients from the clinical practice of the authors at the Medical College of Georgia, Augusta, Georgia.nnnPATIENTSnThirteen oligomenorrheic women with normal DHEAS levels who failed to ovulate on a graduated regimen of CC up to a dose of 150 mg for 5 days.nnnINTERVENTIONSnTen-day course of DEX initiated concurrently with a 5-day course of CC; ovulation and pregnancy outcomes recorded.nnnMAIN OUTCOME MEASUREnPregnancy.nnnRESULTSnEleven of 13 women had evidence of ovulation. Five clinical pregnancies were achieved.nnnCONCLUSIONnThese initial data support improvements in follicular development with an overlapping follicular phase regimen of CC and DEX in patients with normal DHEAS levels and a previous poor response.

Ovarian cholelithiasis after laparoscopic cholecystectomy associated with chronic pelvic pain.

OBJECTIVEnTo report a case of chronic pelvic pain associated with ovarian cholelithiasis and discuss prevention and management of this condition.nnnDESIGNnCase report.nnnSETTINGnUniversity hospital.nnnPATIENT(S)nA 39-year-old woman who presented with right lower abdominal pain after a laparoscopic cholecystectomy.nnnINTERVENTION(S)nDiagnostic laparoscopy followed by laparotomy with lysis of adhesions and removal of three to four dozen gallstones.nnnMAIN OUTCOME MEASURE(S)nPatients subjective report of pain.nnnRESULT(S)nResolution of patients pain.nnnCONCLUSION(S)nGallstones spilled into the peritoneal cavity may migrate and adhere to the dependent portions of the pelvis, potentially resulting in pelvic pain or infertility. This suggests the importance of removing inadvertently spilled gallstones at the time of surgery or using nonsurgical methods of gallstone management in reproductive-aged females.

Pelvic adhesion formation after intraperitoneal installation of gallstones in a rabbit model

OBJECTIVEnTo investigate whether intraperitoneal gallstones increase the risk of pelvic adhesions in a rabbit model.nnnDESIGNnProspective, randomized, blinded, sham and human antigen controlled trial.nnnSETTINGnAn academic research environment.nnnSUBJECT(S)nTwelve New Zealand white rabbits.nnnINTERVENTION(S)nTwelve rabbits were divided into three groups of four each; a sham operation group, a gallstone and bile group (study group), and a human serum albumin and bile group (antigenic control). Three weeks after the operation individual subjects were randomized, with groups concealed to observers, and a necropsy was performed on each rabbit.nnnMAIN OUTCOME MEASUREMENT(S)nNecropsy was performed on each rabbit, and the adhesions were scored for extent, type, tenacity, inflammation, and gallstone involvement.nnnRESULT(S)nThere was a statistically and biologically significant increase in gallstone involvement in adhesions, especially pelvic adhesions, in the study group.nnnCONCLUSION(S)nThis study, along with an increasing number of case reports, suggests that gallstones inadvertently left in the peritoneal cavity may increase the morbidity of laparoscopic cholecystectomy. In females of reproductive age these gallstones may induce pelvic adhesions that may interfere with fertility or be associated with pelvic pain.

Abbreviated Antibiotic Therapy for Clinical Chorioamnionitis : A Randomized Trial

Simple observation may he adequate therapy for patients with clinical chorioamnionitis after vaginal delivery. This study involves 41 subjects who delivered vaginally and had chorioamnionitis. Subjects were prospectively assigned in a randomized, double-blind fashion to either a continued antibiotic or placebo group. Postpartum observation without antibiotics in select patients with chorioamnionitis was supported by equivalent results in the two groups.

Nonfunctioning pituitary macroadenoma presenting with mild hyperprolactinemia and amenorrhea

OBJECTIVEnTo describe a patient with a clinically nonfunctioning pituitary macroadenoma who presented with mild hyperprolactinemia and amenorrhea.nnnDESIGNnCase report.nnnSETTINGnTertiary care medical facility.nnnPATIENT(S)nA 44-year-old woman with a 6-month history of amenorrhea.nnnINTERVENTION(S)nPituitary testing, magnetic resonance imaging of the sella turcica, and transsphenoidal surgery.nnnMAIN OUTCOME MEASURE(S)nPituitary function testing, magnetic resonance imaging, and return of menstrual cycles.nnnRESULT(S)nBaseline laboratory data revealed a serum prolactin level of 34 ng/mL (normal range, 3-20 ng/mL), normal thyroid function test results, and an FSH level of 6.7 mIU/mL. A second fasting prolactin level was 48 ng/mL. Magnetic resonance imaging of the sella turcica revealed a pituitary macroadenoma measuring 1.4 x 3.2 cm. Further testing of baseline pituitary function revealed normal findings. The patient underwent an uncomplicated transsphenoidal resection of the pituitary tumor and maintained normal pituitary function. Pathologic evaluation revealed a pituitary adenoma that stained positive for FSH and focally for the alpha subunit. The adenoma stained negative for GH, prolactin, ACTH, LH, and TSH.nnnCONCLUSION(S)nThis patient had a nonsecreting gonadotroph macroadenoma that resulted in hypogonadotropic hypogonadism along with mild hyperprolactinemia, presumably secondary to interruption of normal transport down the pituitary stalk.

Lack of Magainin‐Like Activity in Human Cervical Tissue

PROBLEM: The cervix plays an integral role in innate immunity of the human reproductive tract. Magainins are antimicrobial and spermicidal peptides recently described in human submandibular glands. We investigated the human cervix for magainin‐like peptides.