Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism.

Introduction: Delayed puberty (DP) is a frequent concern for adolescents. The most common underlying aetiology is self-limited DP (SLDP). However, this can be difficult to differentiate from the more severe condition congenital hypogonadotrophic hypogonadism (HH), especially on first presentation of an adolescent patient with DP. This study sought to elucidate phenotypic differences between the two diagnoses, in order to optimise patient management and pubertal development. Methods: This was a study of a UK DP cohort managed 2015-2023, identified through the NIHR clinical research network. Patients were followed longitudinally until adulthood, with a definite diagnosis made: SLDP if they had spontaneously completed puberty by age 18 years; HH if they had not commenced (complete, cHH), or had commenced but not completed puberty (partial, pHH), by this stage. Phenotypic data pertaining to auxology, Tanner staging, biochemistry, bone age and hormonal treatment at presentation and during puberty were retrospectively analysed. Results: 78 patients were included. 52 (66.7%) patients had SLDP and 26 (33.3%) patients had HH, comprising 17 (65.4%) pHH and 9 (34.6%) cHH patients. Probands were predominantly male (90.4%). Male SLDP patients presented with significantly lower height and weight standard deviation scores than HH patients (height p=0.004, weight p=0.021). 15.4% of SLDP compared to 38.5% of HH patients had classical associated features of HH (micropenis, cryptorchidism, anosmia, etc. p=0.023). 73.1% of patients with SLDP and 43.3% with HH had a family history of DP (p=0.007). Mean first recorded luteinizing hormone (LH) and inhibin B were lower in male patients with HH, particularly in cHH patients, but not discriminatory. There were no significant differences identified in blood concentrations of FSH, testosterone or AMH at presentation, or in bone age delay. Discussion: Key clinical markers of auxology, associated signs including micropenis, and serum inhibin B may help distinguish between SLDP and HH in patients presenting with pubertal delay, and can be incorporated into clinical assessment to improve diagnostic accuracy for adolescents. However, the distinction between HH, particularly partial HH, and SLDP remains problematic. Further research into an integrated framework or scoring system would be useful in aiding clinician decision-making and optimization of treatment. .

Treatment of megarectum in anorectal malformation with emphasis on preventive aspects: 17 years experience.

PURPOSE: Megarectum in anorectal malformation (ARM) causes severe morbidity. To compare conservative management (CM) of megarectum with excision (EX), to propose a new classification and to analyse management strategies. METHODS: Between 2000-2016, we reviewed all ARM to identify megarectum, defined by radiological recto-pelvic ratio > 0.61. A new classification was proposed: primary megarectum (PM) pre-anorectoplasty, and secondary megarectum (SM) post-anorectoplasty, with sub-types. Complications and Krickenbeck bowel function were compared between CM and EX. RESULTS: Of 124 ARM, 22 (18%) developed megarectum; of these, 7 underwent EX. There was no difference in functional outcomes when comparing CM vs EX-voluntary bowel movement (both 86%), soiling (40% vs. 57%) and constipation (both 86%). However, EX was associated with major complications (43%) and the requirement for invasive bowel management, compared to CM (85% vs. 27%, P = 0.02). 6/7 EX needed antegrade continence enema (ACE), one of these has a permanent ileostomy. With strategic changes, incidence of megarectum reduced from 20/77 (26%) to 2/47 (4%) after 2013 (P = 0.002). CONCLUSION: EX did not confer benefit in the functional outcome but carried a high risk of complications, often needing ACE or stoma. By adhering to strategies discussed, we reduced the incidence of megarectum and have avoided EX since 2013.