Claire Jeandel

Peripheral precocious puberty in a 4-month-old girl: role of pesticides?

A 4-month-old girl presented with sexual development, including breast enlargement, menstruation, uterine length of 69 mm at ultrasonography, and dramatically high estrogen bioactivity, but no growth acceleration, pubic hair, pelvis masses or adrenal tumors. Gas chromatography with an electron capture detector and mass spectrometry detected pesticides (p,p′-DDD, p,p′-DDT, lindane and endosulfan sulpfate) in plasma from the infant, the mother, and the 38-year-old father, who reported a dramatic decrease in libido, and in soil samples from their farm. The precocious sexual development was probably caused by the estrogen activity of the environmental contamination by tons of pesticides stored in the family farm.

Late surgical correction of hypospadias increases the risk of complications: a series of 501 consecutive patients

To evaluate the outcomes of hypospadias surgery according to age and to determine if some complications are age‐related.

Disorders linked to insufficient androgen action in male children

Virilization of the external genitalia in the male fetus requires testosterone and dihydrotestosterone (DHT), which is formed from testosterone by the action of the enzyme, 5α‐reductase type 2 (5αR‐2). Mediation of the effects of both testosterone and DHT requires a functional androgen receptor (AR) located in the cytoplasmic compartment of target cells. DHT (or testosterone) binding induces a conformational change which facilitates AR nuclear transport, phosphorylation and dimerization, ultimately regulating of the rate of transcription of androgen‐dependent genes. Any event which impaire DHT formation (mutation within the 5αR‐2 gene or 5αR‐2 inhibitors) or normal function of the AR (mutation in the AR gene, antiandrogens) may result in insufficient androgen action in the male fetus and in subsequent undervirilization in the newborn. Hypospadias may be due to a defect in androgen action due to mutation of the 5αR‐2 or of the AR gene. Mutation of unidentified genes is likely to underlie this displacement of the urethral meatus from the tip to the ventral side of the phallus. An aetiological role for environmental chemical products has been postulated, since ethnic as well as geographical differences in the incidence of hypospadias have been noted. Increasing evidence has been gathered indicating that widely used industrial and agricultural chemicals have deleterious effects on normal male sexual differentiation. Cryptorchidism and micropenis may represent an intersex phenotype, even if they are isolated. Aetiological factors include 5αR‐2 gene mutation, AR gene mutation or environmental hormonal disruptors. In conclusion, several phenotypes have been attributed to insufficient androgen action during fetal life. Whereas mutations in the 5αR‐2 gene and AR gene are natural, attention should be focused on environmental endocrine disruptors that are able to mimic steroid 5α‐reductase deficiency or partial androgen insensitivity syndrome.

Very premature pubarche in girls is not a pubertal variant

Premature pubarche (PP) in girls is considered to be a benign phenomenon and is the clinical expression of premature adrenarche. Since it does not usually increase the risk of either abnormalities in pubertal development or a reduced final adult height, a non-interventional approach is generally adopted after exclusion of non-classical (NC) congenital adrenal hyper-plasia (CAH). Extremely premature pubarche is nevertheless not a pubertal variant. We here report two cases of adrenocortical tumors (ACT) for which precocious pubarche was the initial sign. This report suggests that premature pubarche is not always a mere pubertal variant and that a delay in the etiological diagnosis can be harmful. Therefore, pubarche before the age of four years should be considered as a feature of ACT or NC CAH until proven otherwise.

Newborn Ambiguous Genitalia Management

The observation of ambiguous genitalia signals a medical, surgical, and psychological emergency. When a baby is born with ambiguous genitalia, the normally routine announcement of the babys gender cannot be made to the parents, and its future identity, which is largely based on gender, will—in a very real sense—be held in suspension until the most appropriate sex for rearing is chosen.