Endocrine Abstracts

Longstanding Paediatric guidance on the assessment and management of children with undifferentiated pubertal delay is not fit for purpose in relation to patients who are older and/or have obvious "red flag" clinical features to sign-post high risk for congenital hypogonadism. For these individuals, the well-intentioned stock phrases that "constitutional (or self-limiting) delayed puberty is always the more likely diagnosis", "attainment of Tanner 2+ indicates that normal puberty has begun" and "hormone treatment should aim to recapitulate the normal tempo of puberty" have been misleading clinicians and, consequently, letting down their patients for too long. "Red flags" can be classified as "reproductive", such as neonatal cryptorchidism or microphallus, or "non-reproductive", comprising the spectrum of congenital anomalies found in association with Kallmann, CHARGE, or Turner syndromes, for instance. Patients of both sexes, who should have been identified in childhood as having high risk of congenital hypogonadism and thus commenced on sex hormones at the median age of normal puberty onset, are instead only getting adequate diagnosis and treatment at a median age of 18-19 years. The possibility of diagnosing and treating absent neonatal male minipuberty with combined gonadotropin treatment continues to be missed in the vast majority of cases, leading to unnecessary surgical orchidopexy procedures and, potentially, worse fertility treatment outcomes in adult life. Hypogonadal men and women report high levels of anxiety, distress, depression and psychosexual dissues, including body shame and difficulty with intimate relationships. The outcomes of spermatogenesis-induction with gonadotropins remain disappointing, and women achieve uterine volumes that are only 60% of their eugonadal nulliparous peers as a result of historic protocols. Therefore, adult Endocrinologists with experience of managing patients with congenital hypogonadism over the course of their adult lives, should contribute more significantly to the next generation of guidelines relating to the investigation and management of delayed puberty.