Sertoli cell-only syndrome

Sertoli cell-only syndrome
Classification and external resources
OMIM	305700 400042
DiseasesDB	31907
eMedicine	med/2104
MeSH	D054331

Sertoli cell-only syndrome (a.k.a. Del Castillo syndrome and germ cell aplasia ^[1]) is a disorder characterized by male sterility without sexual abnormality. It is the result of absent seminiferous tubules in the testes of germinal epithelium, while Sertoli cells are present.^[2]

1 Features
2 Diagnosis
3 Pathophysiology
4 Treatment
5 References

Features

The Sertoli cell-only syndrome patients normally have normal secondary male features and have normal- or small-sized testes.

Diagnosis

Testicular biopsy would confirm the absence of spermatozoa .

Pathophysiology

Sertoli cell only syndrome is likely multifactorial, and characterized by severely reduced or absent spermatogenesis despite the presence of both Sertoli and Leydig cells. A substantial subset of men with this uncommon syndrome have microdeletions in the Yq11 region of the Y chromosome, an area known as the AZF (azoospermia factor) region. Generally speaking, testosterone and LH levels are normal, but due to lack of inhibin, FSH levels are increased.

Treatment

Sertoli cell only syndrome is like other non-obstructive azoospermia (NOA) cases are managed by sperm retrieval through testicular sperm extraction (mTESE), micro-surgical testicular sperm extraction (mTESE) , or testicular biopsy.^[3] On retrieval of viable sperms this could be used in Intracytoplasmic Sperm injection ICSI

In 1979, Levin described germinal cell aplasia with focal spermatogenesis where a variable percentage of seminiferous tubules contain germ cells.^[4] It is important to discriminate between both in view of ICSI.

References

^ Sertoli cell-only syndrome at eMedicine
^ Online Medical Dictionary.
^ Talas H, Yaman O, Aydos K (Sep 2007). "Outcome of repeated micro-surgical testicular sperm extraction in patients with non-obstructive azoospermia". Asian J Androl. 9 (5): 668–73. doi:10.1111/j.1745-7262.2007.273.x. PMID 17712484.
^ Levin HS (September 1979). "Testicular biopsy in the study of male infertility: its current usefulness, histologic techniques, and prospects for the future". Hum. Pathol. 10 (5): 569–84. doi:10.1016/S0046-8177(79)80100-8. PMID 43278.

Endocrine pathology: endocrine diseases (E00–E35, 240–259)

Pancreas/
glucose
metabolism

Hypofunction	Diabetes mellitus types: (type 1, type 2, MODY 1 2 3 4 5 6) · complications (coma, angiopathy, ketoacidosis, nephropathy, neuropathy, retinopathy, cardiomyopathy) insulin receptor (Rabson–Mendenhall syndrome) · Insulin resistance

Hyperfunction	Hypoglycemia · beta cell (Hyperinsulinism) · G cell (Zollinger–Ellison syndrome)

Hypothalamic/
pituitary axes

Hypothalamus

gonadotropin (Kallmann syndrome, Adiposogenital dystrophy) · CRH (Tertiary adrenal insufficiency) · vasopressin (Neurogenic diabetes insipidus) · general (Hypothalamic hamartoma)

Pituitary

Hyperpituitarism	anterior (Acromegaly, Hyperprolactinaemia, Pituitary ACTH hypersecretion) · posterior (SIADH) · general (Nelson's syndrome)

Hypopituitarism	anterior (Kallmann syndrome, Growth hormone deficiency, ACTH deficiency/Secondary adrenal insufficiency) · posterior (Neurogenic diabetes insipidus) · general (Empty sella syndrome, Pituitary apoplexy, Sheehan's syndrome, Lymphocytic hypophysitis)

Thyroid

Hypothyroidism	Iodine deficiency · Cretinism (Congenital hypothyroidism) · Myxedema · Euthyroid sick syndrome

Hyperthyroidism	Hyperthyroxinemia (Thyroid hormone resistance, Familial dysalbuminemic hyperthyroxinemia) · Hashitoxicosis · Thyrotoxicosis factitia · Graves' disease

Thyroiditis	Acute infectious · Subacute (De Quervain's, Subacute lymphocytic) · Autoimmune/chronic (Hashimoto's, Postpartum, Riedel's)

Goitre	Endemic goitre · Toxic nodular goitre · Toxic multinodular goiter Thyroid nodule

Parathyroid

Hypoparathyroidism	Pseudohypoparathyroidism

Hyperparathyroidism	Primary · Secondary · Tertiary · Osteitis fibrosa cystica

Adrenal

Hyperfunction	aldosterone: Hyperaldosteronism/Primary aldosteronism (Conn syndrome, Bartter syndrome, Glucocorticoid remediable aldosteronism) · AME · Liddle's syndrome · 17α CAH cortisol: Cushing's syndrome (Pseudo-Cushing's syndrome) sex hormones: 21α CAH · 11β CAH

Hypofunction/ Adrenal insufficiency (Addison's, WF)	aldosterone: Hypoaldosteronism (21α CAH, 11β CAH) cortisol: CAH (Lipoid, 3β, 11β, 17α, 21α) sex hormones: 17α CAH

Gonads

ovarian: Polycystic ovary syndrome · Premature ovarian failure

testicular: enzymatic (5-alpha-reductase deficiency, 17-beta-hydroxysteroid dehydrogenase deficiency) · Androgen receptor (Androgen insensitivity syndrome)

general: Hypogonadism (Delayed puberty) · Hypergonadism (Precocious puberty)

Height

Gigantism · Dwarfism/Short stature (Laron syndrome, Psychosocial)

Multiple

Autoimmune polyendocrine syndrome (APS1, APS2) · Carcinoid syndrome · Multiple endocrine neoplasia (1, 2A, 2B) · Progeria (Werner syndrome, Acrogeria, Metageria) · Woodhouse-Sakati syndrome

M: END

anat/phys/devp/horm

noco(d)/cong/tumr, sysi/epon

proc, drug (A10/H1/H2/H3/H5)

Male congenital anomalies of the genitalia, including Intersex and DSD: (Q53–Q56 · 752.5–752.7)

Internal

Testicle	Cryptorchidism · Polyorchidism · Monorchism · Anorchia · Sertoli cell-only syndrome True hermaphroditism · Mixed gonadal dysgenesis · Swyer syndrome

Vas deferens	Congenital absence of the vas deferens

Other	Persistent Mullerian duct syndrome

External

Penis	Hypospadias · Chordee · Micropenis · Penile agenesis · Diphallia

Other	Pseudohermaphroditism

M: ♂ MRS

anat/phys/devp

noco/cong/tumr, sysi/epon

proc, drug (G3B/4BE/4C)