Ovarian failure common, usually during childhood, in girls with APECED

medwireNews: Primary ovarian insufficiency (POI) affects the majority of girls with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), in most cases occurring before they have attained their final adult height, show data from a national cohort.

“We conclude that since POI may develop already before onset of spontaneous pubertal development or before completion of spontaneously started development and adult height, careful and frequent follow-up is warranted in all females with APECED”, say the researchers.

“Timely commencement of hormonal replacement therapy [HRT] is important to ensure similar pubertal timing with peers, normal growth and normal bone density.”

Saila Laakso (University of Helsinki and Helsinki University Hospital, Finland) and colleagues note that the POI frequency found in their study, of 70%, is considerably higher than in previous reports, but add that the criteria for diagnosing POI were not defined in these previous studies.

The criteria in the current study were delayed puberty or POI symptoms with amenorrhoea, and/or follicle stimulating hormone levels of at least 40 IU/L.

The study cohort comprised 40 patients who were diagnosed with APECED (also called autoimmune polyendocrine syndrome type I) at a median age of 6.9 years and followed up to a median age of 37.7 years. Of the 28 who developed POI, 11 did so before reaching menarche, six of these before attaining Tanner breast stage 2. The median age at POI diagnosis was 16.0 years, with 20 patients being diagnosed before they had attained their final height.

Patients who developed POI while still growing were significantly shorter at the point of menarche than those who did not develop it until later in life, with an average height standard deviation score (SDS) of approximately –1.9 versus –0.7. But by the time they had reached their final adult height, this difference was no longer significant, at corresponding height SDSs of –1.30 and –0.95.

“This presumably reflected the effects of correctly timed and slowly increased doses of estrogen substitution allowing slow bone maturation while inhibiting too early epiphyseal ossification”, write the researchers in the European Journal of Endocrinology.

All 11 patients who had POI before menarche were given HRT to complete pubertal development, starting at a median age of 14.7 years.

“Adequate and in time started HRT is important to ensure optimal longitudinal growth, maximal peak bone mass, development of secondary sexual characteristics, and growth of uterus”, say Laakso and team, adding: “Adequate HRT is also important for psychosocial wellbeing.”

Patients with POI more frequently had primary adrenocortical insufficiency than those without, at 93% versus 58%; this preceded POI in all except two patients.

Primary adrenocortical insufficiency was one of three common APECED manifestations, along with hypoparathyroidism and chronic mucocutaneous candidiasis, that primarily appeared before puberty. POI, on the other hand, was more likely to occur between puberty onset and final adult height. Hypothyroidism was the only other feature to occur in at least 50% of the patients, but this was rarely diagnosed before patients attained final adult height.

By Eleanor McDermid

medwireNews is an independent medical news service provided by Springer Healthcare Ltd. © 2020 Springer Healthcare Ltd, part of the Springer Nature Group

Eur J Endocrinol 2020; doi:10.1530/EJE-20-0516
Martin Savage
Programme Director

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