Diane Francoeur

Leydig Cell Tumors in Children: Contrasting Clinical, Hormonal, Anatomical, and Molecular Characteristics in Boys and Girls

OBJECTIVEnTo analyze the clinical, hormonal, anatomical, and molecular characteristics of Leydig cell tumors, a very rare cause of progressive hyperandrogenism in children.nnnSTUDY DESIGNnDescription of a 9-year-old boy with isosexual precocious pseudopuberty, and of a 12-year-old girl with rapidly progressive virilization, both due to a pure Leydig cell tumor. Review of all cases of pediatric Leydig cell tumors published since 1999 (when the first somatic mutations of the luteinizing hormone receptor were described) and reporting hormonal and/or molecular data.nnnRESULTSnBoys (n = 24) are younger than girls (n = 12) at diagnosis (median 6.5 vs 13.0 years, P = .04). Plasma gonadotrophins are more often completely suppressed in boys (6 cases) than in girls (2 cases). Pure Leydig cell tumors are exceedingly rare in girls (2 cases), who most often have Sertoli-Leydig tumors. These tumors affect either testis equally (11 left, 13 right) but occur more often in the left ovary (8 left, 3 right). Activating mutations of the alpha-subunit of the G(s) stimulatory protein have not been found in either boys or girls and activating mutations of the luteinizing hormone receptor have only been found in boys.nnnCONCLUSIONSnLeydig cell tumors in children display clinical, hormonal, anatomical, and molecular sexual dimorphism.

Non-immune goiter and hypothyroidism in a 19-week fetus: a plea for conservative treatment.

Hypothyroidism was documented by cordocentesis at 19 weeks in a fetus with non-immune goiter. Intra-amniotic thyroxine was injected at 25 weeks when amniotic fluid volume increased. Psychomotor outcome was normal. We argue that intra-amniotic thyroxine should not be used to treat the hypothyroidism but only to correct the development of polyhydramnios.

Hypoplastic Uterus and Clitoris Enlargement in Swyer Syndrome

BACKGROUNDnSwyer syndrome is associated with absent testicular differentiation in a 46XY phenotypic female.nnnCASEnA 17-year-old female presented with primary amenorrhea and 46XY karyotype. Breast and pubic hair development were Tanner 2, and clitoral enlargement was noted. Magnetic resonance imaging revealed a hypoplastic uterus and 2 normal ovaries. Serum follicle-stimulating hormone and luteinizing hormone were elevated. Testosterone and androstenedione were in the female range. Dehydroepiandrosterone sulfate was slightly elevated. Laparoscopic bilateral gonadectomy was performed. Pathology reports showed bilateral microscopic benign hilar cell tumors.nnnSUMMARY AND CONCLUSIONnThe diagnosis was a real puzzle for the clinicians because of the association of clitoral hypertrophy without hirsutism, female internal genitalia, and a 46XY karyotype. Clitoral enlargement can be explained by transient androgen secretion by the hilar cells found in the resected gonads.

Teen Pregnancy and Substance Use

Abstract Pregnant adolescents use cigarettes and alcohol, and possibly illicit drugs, at rates similar to those of their non-pregnant peers. Most discontinue use during the first trimester of pregnancy, but use tends to increase after delivery. Substance use is best detected by direct questioning; urine screening is not universally effective. Several therapeutic interventions can be used in helping pregnant adolescents discontinue substance use and establish a drug-free environment.

The Effect of Adequate Gestational Weight Gain among Adolescents Relative to Adults of Equivalent Body Mass Index and the Risk of Preterm Birth, Cesarean Delivery, and Low Birth Weight.

OBJECTIVEnTo determine whether similar odds of cesarean delivery (C/S), preterm birth (PTB), and low birth weight (LBW) are observed among adolescents compared with body mass index (BMI)-equivalent adults in cases of adequate gestational weight gain.nnnSTUDY DESIGNnWe conducted a retrospective, population-based, cohort study using the Center for Disease Control and Preventions birth data files from the United States for 2012. We selected from the cohort all singleton, cephalic pregnancies and stratified them according to maternal age, prepregnancy BMI, and gestational weight gain following the 2009 Institute of Medicine (IOM) recommendations. The effect of adequate gestational weight gain among adolescents relative to adults of equivalent BMI on the risk of C/S, PTB, and LBW was estimated using logistic regression analysis, adjusting for relevant confounders.nnnRESULTSnWe analyzed a total of 3,960,796 births, of which 1,036,646 (26.1%) met the inclusion criteria. In adolescents and adults, likelihood of achieving ideal gestational weight gain decreased with greater prepregnancy BMI. Relative to adults, the overall odds of C/S in all adolescents were (adjusted odds ratio [95% confidence interval]) 0.61 (0.58 to 0.63). When comparing equivalent BMI categories, these odds were unchanged (P < .0001). The overall adjusted odds ratio of LBW was 1.15 (1.13 to 1.16). These odds were significantly higher when BMI stratification took place, decreasing with advancing BMI categories, from 1.23 (1.14 to 1.33) among the underweight, to nonsignificant differences in the obese classes (P < .05). Finally, when including only those achieving ideal weight gain, the overall odds of premature delivery (1.17 [1.14 to 1.20]) were higher among nonobese adolescents, while they were not found among the obese.nnnCONCLUSIONnWhen ideal gestational weight gain is attained, only nonobese adolescents exhibit a greater risk of LBW and preterm birth relative to adults of similar BMI, whereas the risk of C/S remains lower for all adolescents, independent of BMI. This information may be useful in the counseling of adolescent pregnancies.

Abnormal pap smears in adolescents.

Goldfarb: I think this discussion has pointed out several things when it comes to the management of adolescent gynecology and the problems that might exist from an infectious standpoint in the vulvovaginal canal and the cervix. Every young lady that has HPV must be tested for other STIs. We would also discuss serum screening for sexually transmitted infections and arrange a follow-up visit to discuss the results. I have found that the older adolescent age 16 to 18 is comfortable with this discussion and is willing to understand the boundaries of confidentiality. I also get down on my knees and beg them not to have an unintended pregnancy and discuss contraception and in the future to avoid sexually transmitted infections. I tell them to make sure the man is wearing a condom every time you make love and be comfortable looking at his penis to be sure there are no warts or lesions on the foreskin or penis itself. Breech: I guess in closing the point that I would think of most for health care providers of adolescents would be to use the interaction you have with the adolescent to employ as much education as possible. Certainly obtaining Pap smears and discussing abnormal Paps. (excerpt)