Background: Genetic females with congenital adrenal hyperplasia (CAH) from severe 21-hydroxylase deficiency may be declared at birth as cryptorchid boys. Neonatal salt wasting leads to early reassignment but in its absence, the condition may go unrecognized.
Case presentation: A term newborn with non-palpable gonads but a penile urethra was declared as boy. At 4.8 years, the child presented with sexual precocity. Height was +2.3 S.D., penile length 9 cm, gonads not palpable, and pubic hair stage 3. Bone age was 12 years. On ultrasound, no uterus was identified and a gonad was described as a testicle. Serum 17-hydroxy-progesterone was 7440 ng/dl, DHEAS 139 mcg/dl, testosterone 224 ng/dl, LH < 0.1 and FSH 0.49 mIU/l. Karyotype analysis is unavailable in Haiti. With a diagnosis of CAH, treatment with prednisone was started. Thelarche developed 1 year later, progressed to stage M4, followed by monthly urethral bleedings lasting 34 days. Repeat ultrasound at age 6.9 years showed a pubertal uterus and ovaries. Upon informing the mother, she stated that she had known all along that her child was female inside and male outside, and she did not consider sex reassignment. Prednisone was discontinued in an attempt to stop menstruation and reduce breast development.
Conclusions: Term newborns with a male phallus but non-palpable testes should undergo pelvic ultrasound. While the neonatal uterus, stimulated by maternal estrogens, should be visible, it may become hypoplastic from gonadotropin suppression and thus missed in older genetic females with CAH. When karyotype analysis is unavailable, the search for a Barr body should be considered; indeed, our observation has led to this technique being introduced in Haiti. Late sex reassignment is often unacceptable to the parents and needs to be viewed in the cultural context. Long-term follow-up of this patient to adulthood with a focus on psychosexual development is planned.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology