Child with ‘46, XX’ disorder of sex development: clues to diagnose aromatase deficiency

Abstract

A diagnosis of congenital adrenal hyperplasia (CAH) in a ‘46, XX’ newborn with ambiguous genitalia is like a ‘knee jerk reaction’ of the paediatrician because of its higher frequency and life-threatening consequences if remain undiagnosed and hence untreated. Aromatase deficiency (AD), a rare cause of ‘46, XX’ disorder of sex development, mimics virilising CAH in many aspects; thus, the disease is often overlooked. Diagnosis of AD in women is much easier around puberty due to the presence of primary amenorrhoea, undeveloped breasts, androgen excess and tall stature with eunuchoid proportions. Diagnosing AD with confidence immediately after birth or during early childhood is a challenging task without genetic analysis. In resource-restricted settings, AD remains a diagnosis of exclusion particularly in this age group and history of maternal virilisation, non-progressive genital ambiguity, elevated gonadotrophins (follicle-stimulating hormone >>luteinising hormone), mildly delayed bone age with/without enlarged polycystic ovaries serve as important clues to the underlying AD.

Diagnosis and Management of 46 XX Disorders of Sex Development (DSD) Aromatase Deficiency in Resource-Restricted Setting

“…Progressive decline in androgen levels in both mother and child from birth to early infancy are helpful indicators of AD. 3 International Journal of Scientific Advances ISSN: 2708-7972 In this case the patient was late diagnosed DSD at 12 years of age. The first assessment of a neonate with a suspected DSD can be challenging.…”

“…Previous case of 46,XX DSD AroD were female and did not change the gender. 1,3,17 Psychosexual development is traditionally conceptualized as 3 components:…”

Congenital aromatase deficiency – A virilizing masquerade!

“…However, hypoplastic ovaries and streak echotexture have also been reported, though the mechanisms are unclear. [4,5] The fertility prospects are unfavorable for a woman with AD and no successful pregnancies have been reported till date. AD simulates metabolic syndrome-like phenotype comprising central obesity, fatty liver, and insulin resistance.…”