Markers of Fertility in Adolescents With Chronic Endocrinopathies at Transition From Paediatric to Adult Care

TL;DR

This study examines fertility markers in adolescents with endocrine disorders transitioning to adult care, finding impaired fertility markers in certain conditions.

Contribution

The study identifies specific fertility marker patterns in chronic endocrinopathies, highlighting limitations in predicting fertility for MPHD patients.

Findings

Serum inhibin B and AMH levels were lower in Turner syndrome and female MPHD compared to GHD and SGA.

Male MPHD and Klinefelter syndrome showed higher AMH but lower inhibin B levels.

Ovarian and testicular volumes were reduced in TS and KS, indicating impaired fertility markers.

Abstract

During the process of transition from paediatric to adult health care, counselling concerning fertility is an important issue and is based mainly on serum markers of gonadal function. Here, we analysed these markers in adolescents with various underlying endocrine diseases at the time of transition.

After reaching near adult height and late puberty (girls: bone age [BA] ≥14 years, and boys: BA ≥16 years), we assessed stages of puberty according to Tanner and measured testes or ovarian volumes and serum markers of gonadal function (anti‐Mullerian hormone [AMH], inhibin B, 17β‐estradiol, testosterone).

One hundred and ten patients (56 females and 54 males) were included from May 2010 to March 2016 with multiple pituitary hormone deficiency (MPHD; n = 17), growth hormone deficiency (GHD; n = 35), Turner syndrome (TS; n = 27), short stature after being born small for gestational age (SGA; n = 20) and Klinefelter syndrome (KS; n = 11). Female and male adolescents exhibited mature secondary sexual characteristics. The levels of serum inhibin B and AMH were lower in TS and female MPHD than in GHD and SGA, each independently (p < 0.05). The levels of serum AMH were higher whereas serum inhibin B were lower in male MPHD and KS (p < 0.05). Ovary volumes were significantly smaller in patients with TS, and testicular volumes were smaller in patients with KS.

After current established treatments with sex steroids, the development of secondary sexual characteristics was mature. However, impaired markers of fertility have been identified in patients with TS, KS and MPHD, reflecting gonadal dysgenesis in TS and KS, but gonadal immaturity in MPHD as gonadal gonadotropin stimulation is lacking throughout development. Consequently, in patients with MPHD, these markers cannot reliably predict individual fertility, which warrants consideration and incorporation in future treatment concepts.

Pubertal development was complete after established treatments with either estradiol valerate or testosterone enantate. Markers of fertility were impaired in TS, KS and MPHD, reflecting gonadal dysgenesis in TS and KS, but immaturity in MPHD. In patients with MPHD, these markers cannot reliably predict individual fertility.

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