Hypogonadism and Puberty in Alström Syndrome

Pubertal development in Alström Syndrome often follows an unusual course — frequently with delayed or arrested progression — and most adults with Alström have hypogonadism (low function of the gonads). The pattern differs between males and females. This article covers what's typical, when intervention is considered, and what fertility considerations are relevant.

Hypogonadism is reduced function of the testes (in males) or ovaries (in females). It can be:

• Primary (peripheral) — the gonads themselves don't work properly
• Secondary (central) — the pituitary or hypothalamus doesn't signal the gonads adequately

In Alström, both patterns have been described, with primary gonadal failure becoming more prominent in adults.¹

In males

• Puberty often begins on time but may arrest at Tanner stage 3 or 4
• Some males with Alström progress through puberty largely normally
• Many adult males have low testosterone and reduced fertility
• Gynecomastia (breast tissue development) is reported in some
• Testicular fibrosis develops over time²

In females

• Pubertal patterns vary more
• Some have precocious puberty (earlier than typical)
• Many have polycystic ovary syndrome (PCOS) features — hirsutism, irregular menstruation, related to insulin resistance
• Ovulation and fertility are often reduced
• Most have menstrual irregularity in adulthood³

A 2025 paper described primary gonadal failure as a near-universal finding in adults with median age of 29 years, with pubertal arrest at Tanner stage 4 a common pattern.⁴

When to evaluate

Consider endocrine evaluation if:

• Puberty hasn't started by age 13–14
• Puberty starts but arrests partway through
• Menstruation is highly irregular or absent
• Significant features of androgen deficiency (males) or estrogen deficiency
• Fertility-related concerns in adulthood

Tests

• LH and FSH — gonadotropins from the pituitary
• Testosterone (males) or estradiol (females)
• AMH — anti-Müllerian hormone for ovarian reserve in females
• Prolactin
• Thyroid function — relevant to reproductive function
• Pelvic ultrasound in females
• Testicular ultrasound in males if indicated

Hormone replacement therapy

For males with documented hypogonadism, testosterone replacement supports:

• Pubertal progression in adolescents
• Adult male sexual characteristics
• Bone density
• Muscle mass
• Mood and energy

Available routes include intramuscular injections, transdermal gels, oral and pellet formulations. The endocrinologist guides the choice.

For females, estrogen and progestin replacement support:

• Pubertal development
• Menstrual cycles
• Bone density
• General health

PCOS-related issues (insulin resistance, irregular cycles, hirsutism) are managed with combined approaches including metformin, oral contraceptives, and lifestyle.

Fertility considerations

Fertility in Alström is reduced but not always absent:

• Males with Alström sometimes have residual sperm production with assisted reproductive technology
• Females with PCOS-pattern issues may achieve pregnancy with medical induction of ovulation
• Genetic counseling is essential pre-conception

We cover related topics in Family Planning Options and Pregnancy in Alström Syndrome.

The teen years are emotionally complex when puberty doesn't follow expected patterns. Issues to address:

• Self-image and body changes
• Peer comparisons
• Conversations about fertility and family planning
• Coordination of multiple specialty teams (endocrinology, vision, hearing, cardiology)
• Mental health support

Pediatric endocrinology with adolescent expertise — and patient organizations — both help.

Adults with hypogonadism related to Alström benefit from:

• Stable hormone replacement when indicated
• Regular monitoring (testosterone, lipids, blood counts in males; menstrual function and bone density in females)
• Bone density assessment given the contribution to osteoporosis risk
• Coordinated care between endocrinology and other Alström specialists

• Short Stature and Growth in Alström Syndrome
• PCOS in Women With Alström Syndrome
• Pregnancy in Alström Syndrome
• The Teenage Years With Alström Syndrome
• Family Planning Options When You're an Alström Carrier

April 30, 2026.