Luteoma: An Unusual Cause of Ambiguous Genitalia Garey Noritz, MD1; Ajuah Davis, MD2 MetroHealth Medical Center, Case Western Reserve University, Cleveland, OH1 Cleveland Clinic Foundation, Cleveland, OH2

1
Luteoma An Unusual Cause of Ambiguous
GenitaliaGarey Noritz, MD1 Ajuah Davis,
MD2MetroHealth Medical Center, Case Western
Reserve University, Cleveland, OH1 Cleveland
Clinic Foundation, Cleveland, OH2
Case Presentation A neonate was born with
ambiguous genitalia. The baby was the product of
a full term gestation, born to a 20 year old G1
P1 mother. There were only two prenatal visits.
At 13 weeks, an ultrasound was performed which
showed a normal intrauterine fetus. The mother
presented in labor at 41 weeks and the baby was
delivered via cesarean section for failure to
progress. The Apgar scores were 9 at both one
and five minutes. The genitalia were noted to be
ambiguous and sex was not assigned in the
delivery room. No other anomalies were found.
The baby urinated shortly after delivery from a
urethral meatus located just beneath the
phallus. At 6 hours of age, the babys vitals
were normal, a preprandial glucose was 91 mg/dL
and the baby had eaten 45 cc of formula without
difficulty. On examination, the infant was
vigorous. The head and neck were without
anomaly the heart and lung exams were normal.
Upon palpation of the abdomen, no masses were
felt and organomegaly is not present. Neurologic
exam showed no abnormalities. The extremities
were unremarkable. The genitalia are shown in
Figure 1. There was a phallus measuring 4.5 cm
in length and 1.5 cm in width. It sat at the
upper aspect of a pair of swollen, darkened
labioscrotal folds, which were not fused. When
the phallus was raised, a urogenital sinus is
observed. The anus was separate and
patent. Upon meeting the mother, we noted that
she had moderate facial acne, a deep voice, and
hirsutism. She stated that her physical changes
began around the tenth week of pregnancy. She
also noted enlargement of her clitoris. She
reported no other difficulties with her pregnancy
and was anxious to know the sex of her
baby. Review of the mothers prenatal records
revealed that her 13-week ultrasound showed a
left ovary described as prominent, measuring
6.6 x 2.3 cm and containing a 2.4 cm cyst. A
follow-up ultrasound was recommended but was not
done. Following the delivery, the obstetrician
noted the left ovary to be large and cystic, and
resected it for concerns of neoplasm
Embryology Before the sixth week of gestation,
the male and female embryos have primordial
internal and external genital structures that are
virtually identical. In the absence of
virilizing factors, the fetus will develop as a
female. In the genetic male, the SRY gene on the
Y chromosome causes the undifferentiated gonad to
form the testis. The testes produce
testosterone, which stimulates the Wolffian
(internal male) structures to form, and
anti-Mullerian hormone, which suppresses the
Mullerian (internal female) structures.
Testosterone is then converted to
dihydrotestosterone (DHT) in the skin of the
external genitalia and causes the development of
the penis and scrotum. Male differentiation is
complete around 12 weeks gestation. Without
testosterone, DHT and anti-Mullerian hormone,
female structures develop. Alterations in the
normal hormonal milieu in utero result in
ambiguous genitalia. A genetic female exposed to
virilizing hormones early in gestation can
develop male structures. The excess hormones can
come from the fetus, the placenta or the mother.

Results Electrolyte panel normal (sodium 136
mmol/L, potassium 5.1 mmol/L, chloride 93 mmol/L,
bicarbonate 25 mmol/L, BUN 5 mg/dL, creatinine
0.5 mg/dL, glucose 111 mg/dL, and calcium 10.6
mg/dL). Karyotype 46, XX 17-OHP
normal Infants Testosterone 127 ng/dL (normal
10-30) Mothers Testosterone 271 ng/dL (normal
20-70) Pathology left ovarian mass is
interpreted as a pregnancy luteoma weighing 150
grams. Figure 2 Pregnancy
luteoma Four days following its removal, the
mothers testosterone decreased to 67 ng/dL. A
pelvic ultrasound of the baby showed a uterus of
normal size and appearance. No gonads were
identified, which was probably due to their small
size in a baby of this age. Two months after
birth, the infants testosterone level had
decreased to 29 ng/dL after four months it was
15 ng/dL. There has been some regression of the
clitoral hypertrophy. The baby is doing well and
has been referred to pediatric urology for
clitoral reduction.
Disorders that Virilize both Mother and
Baby Luteoma of Pregnancy a benign ovarian
tumor, activated by placental chorionic
gonadotropin to produce androgens. Placental
Aromatase Deficiency The placenta is not able
to synthesize estrogens large amounts of
androgens are produced Krukenberg tumor tumor
metastatic to the ovary, typically gastric
carcinoma, that may produce androgens during
pregnancy. Maternal Congenital Adrenal
Hyperplasia if uncontrolled production of
androgens Maternal use of androgenic steroids
References American Academy of Pediatrics.
Evaluation of the Newborn with Developmental
Anomalies of the External Genitalia. Pediatrics.
2001 106138-42. Cohen DA, Daughaday WH and
Weldon VV. Fetal and Maternal Virilization
Associated With Pregnancy. American Journal of
Diseases in Childhood. 1982 136353-356. Federm
an DD, Donahoe PK. Ambiguous Genitalia-Etiology,
Diagnosis, and Therapy. Advances in
Endocrinology and Metabolism. 1995
691-116. Jenkins ME, Surana RB and
Russell-Cutts CM. Ambiguous genitals in a female
infant associated with luteoma of pregnancy.
American Journal of Obstetrics and Gynecology.
1968 101923-928. Levine LS, DiGeorge AM.
Adrenal Disorders and Genital Abnormalities. In
Behrman RE, Kliegman RM, Jenson HB, Eds. Nelson
Textbook of Pediatrics. 16th Ed. New York WB
Saunders, 2000. Witchel SS, Lee PA. Ambiguous
genitalia. In Sperling MA, ed. Pediatric
Endocrinology. Philadelphia Saunders, 1996. PP.
31-49. We acknowledge the kind of assistance of
Dr. Santhi Ganesan in preparing the pathologic
slide.
Figure 1 The neonates ambiguous genitalia